Maple Syrup Urine Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

MAPLE SYRUP URINE DISEASE A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2004 by ICON Group International, Inc. Copyright 2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Maple Syrup Urine Disease: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-497-00705-3 1. Maple Syrup Urine Disease-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on maple syrup urine disease. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON MAPLE SYRUP URINE DISEASE ................................................................. 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Maple Syrup Urine Disease.......................................................... 4 The National Library of Medicine: PubMed .................................................................................. 7 CHAPTER 2. NUTRITION AND MAPLE SYRUP URINE DISEASE ....................................................... 49 Overview...................................................................................................................................... 49 Finding Nutrition Studies on Maple Syrup Urine Disease......................................................... 49 Federal Resources on Nutrition ................................................................................................... 50 Additional Web Resources ........................................................................................................... 51 CHAPTER 3. ALTERNATIVE MEDICINE AND MAPLE SYRUP URINE DISEASE................................. 53 Overview...................................................................................................................................... 53 National Center for Complementary and Alternative Medicine.................................................. 53 Additional Web Resources ........................................................................................................... 55 General References ....................................................................................................................... 56 CHAPTER 4. BOOKS ON MAPLE SYRUP URINE DISEASE ................................................................. 57 Overview...................................................................................................................................... 57 Chapters on Maple Syrup Urine Disease..................................................................................... 57 Directories.................................................................................................................................... 58 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 63 Overview...................................................................................................................................... 63 NIH Guidelines............................................................................................................................ 63 NIH Databases............................................................................................................................. 65 Other Commercial Databases....................................................................................................... 67 APPENDIX B. PATIENT RESOURCES ................................................................................................. 69 Overview...................................................................................................................................... 69 Patient Guideline Sources............................................................................................................ 69 Associations and Maple Syrup Urine Disease............................................................................. 72 Finding Associations.................................................................................................................... 73 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 75 Overview...................................................................................................................................... 75 Preparation................................................................................................................................... 75 Finding a Local Medical Library.................................................................................................. 75 Medical Libraries in the U.S. and Canada ................................................................................... 75 ONLINE GLOSSARIES.................................................................................................................. 81 Online Dictionary Directories ..................................................................................................... 82 MAPLE SYRUP URINE DISEASE DICTIONARY.................................................................... 85 INDEX .............................................................................................................................................. 115

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with maple syrup urine disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about maple syrup urine disease, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to maple syrup urine disease, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on maple syrup urine disease. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to maple syrup urine disease, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on maple syrup urine disease. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON MAPLE SYRUP URINE DISEASE Overview In this chapter, we will show you how to locate peer-reviewed references and studies on maple syrup urine disease.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and maple syrup urine disease, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “maple syrup urine disease” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: •

Utility of Hemodialysis in Maple Syrup Urine Disease Source: Pediatric Nephrology. 17(4): 239-242. April 2002. Contact: Available from Springer-Verlag. Service Center Secaucus, 44 Hartz Way, Secaucus, NJ 07094. (201) 348-4033. Summary: Maple syrup urine disease (MSUD) is an inborn error of metabolism stemming from a deficiency in 2-ketoacid dehydrogenase and resulting in the systemic accumulation of branched chain amino acids (BCAAs). Affected children may suffer profound developmental and cognitive impairment from exposure to high levels of BCAA and their associated neurotoxic metabolites. Endogenous renal clearance (by the patient's kidneys) of BCAA is limited and several therapeutic modalities including

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intensive nutritional regimens, exchange transfusions, peritoneal dialysis, and continuous hemofiltration have been utilized in neonates with MSUD, all of which have had varying success in reducing systemic BCAA levels. In this article, the authors report the case of a symptomatic 7 day old, 3 kilogram neonate with MSUD who underwent treatment with a combination of early hemodialysis and aggressive enteral feedings of a metabolically appropriate formula. This approach results in a 75 percent reduction of systemic toxin levels within 3 hours. When compared to other reported modalities of therapy for symptomatic neonates with MSUD, this approach appears to be most efficacious. Moreover, by minimizing the amount of time that an affected neonate is exposed to neurotoxic (damaging to the nervous system) levels of BCAAs, long term developmental and cognitive capabilities may be preserved. 2 tables. 24 references.

Federally Funded Research on Maple Syrup Urine Disease The U.S. Government supports a variety of research studies relating to maple syrup urine disease. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to maple syrup urine disease. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore maple syrup urine disease. The following is typical of the type of information found when searching the CRISP database for maple syrup urine disease: •

Project Title: BRAIN H2D MRS: IMPLEMATION AND INITIAL APPLICATIONS Principal Investigator & Institution: Wang, Zhiyue J.; Assistant Professor; Radiology; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030 Timing: Fiscal Year 2002; Project Start 15-AUG-2002; Project End 31-JUL-2005 Summary: (provided by applicant) The long-term objective is to apply 2D 1H magnetic resonance spectroscopy (MRS) techniques in studies of pediatric neurological disorders. 1H MRS is valuable for evaluating neurological brain diseases. However, there are limitations in current clinical 1H MRS examinations. Most peaks are crowded in a narrow aliphatic spectral window, and numerous low concentration metabolites are overshadowed by a few metabolites present in higher levels, and much valuable information is lost. Most metabolites have coupled spins, and 2D MRS separates the peaks in a second frequency dimension, greatly increasing the information content of the data. Application of 2D MRS in clinical examinations will enhance the abilities for diagnoses and patient management, and improve the understanding of disease processes. The specific aims are: (1) to implement 2D spin-echo double-quantum MRS

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Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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pulse sequences for in vivo measurement of brain metabolites in 1.5T clinical scanners: (1a) to implement a localized pulse sequence optimized for GABA measurement; (1b) to implement localized pulse sequences for general detection of metabolites; (1c) to implement whole-brain measurement pulse sequences for general detection of metabolites. (2) to assign and evaluate peaks detected in the normal brain: (2a) to acquire spectra from metabolite solutions; (2b) to acquire brain spectra and baselines due to macromolecules in a group of adult normal volunteers; (2c) to assign the in vivo peaks and measure metabolite levels, and to determine optimal pulse sequences for studies of Aim 3; (2d) to acquire age-matched control spectra from normal children. (3) to explore the utility of the 2D MRS techniques in patients between the ages of 7 and 11 years: (3a) to study the effects of the ketogenic diet (KD) on brain GABA levels in seizure patients; (3b) to measure the brain?s level of branched chain amino-acids (BCAA) and keto-acids (BCKA) in maple syrup urine disease (MSUD); (3c) to test the hypothesis that low levels of brain galactitol are present even under a lactose restrictive diet; (3d) to study unassigned, unusual spectral peaks found in routine clinical MRS examinations. A localized 1D double-quantum filtered MRS pulse sequence will be modified into several 2D double quantum MRS pulses for localized and whole brain measurement. Different pulse parameters will be used for different types of spin systems. A frequency selective coherent transfer pulse will be used for optimal detection of GABA, and a broadband coherent transfer pulse will be used for all other 2D pulse sequences. The measurement procedures will be applied to normal subjects first. MRS measured GABA level before and after initiation of KD therapy will be compared in seizure patients and correlated with response. The MRS measurement of BCAAs and BCKAs will be conducted during metabolic crisis and in normal conditions in MSUD and correlated with clinical condition and serum BCAA and urine BCKA. In galactosemia, 2D MRS will be used to look for low levels of galactitol, and the MRS results will be correlated with the urine galactitol levels. 2D MRS will also be used to characterize unusual peaks found in clinical practice. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: IMPACT OF A PKU/MSUD METABOLIC CAMP ON SELF MANAGEMENT SKILLS Principal Investigator & Institution: Singh, Rani H.; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002 Summary: The study is designed to evaluate the effectiveness of comprehensive nutrition education and a disease curriculum in a one-week supportive camp environment for young girls (age 10 yrs or >) with phenylketonuria (PKU) and maple syrup urine disease (MSUD). Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: INBORN ERRORS OF METABOLISM IN CELL CULTURE Principal Investigator & Institution: Chuang, David T.; Associate Professor; Biochemistry; University of Texas Sw Med Ctr/Dallas Dallas, Tx 753909105 Timing: Fiscal Year 2002; Project Start 01-JUL-1988; Project End 30-JUN-2006 Summary: (Copied from applicant's abstrct): The long-term goal of this investigation is to understand the biochemical mechanisms underlying mitochondrial multienzyme complex deficiencies. The model system chosen for study is maple syrup urine disease (MSUD), a severe inborn error in branched-chain amino acid metabolism that produces

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mental retardation and often fatal ketoacidosis. The enzyme deficient in MSUD, the mitochondrial branched-chain ct-ketoacid dehydrogenase (BCKD) complex, is organized around a 24-meric transacylase (E2) core, to which other enzyme components comprising a thiamine pyrophosphate (TPP)-dependent decarboxylase (El), a dihydrolipoamide dehydrogenase (E3), a specific kinase and a specific phosphatase are attached through ionic interactions. MSUD is genetically heterogeneous and mutations in four (Ela, E1J3, E2 and E3) of the six genetic loci have been described, however, biochemical mechanisms for these mutations are still poorly understood. Recently, our laboratory has determined the crystal structure of the El a2b2 heterotetramer at 2.7 A resolution. Based on this new structural information, we propose to: 1) characterize the mechanism of oxidative decarboxylation catalyzed by human El, and dissect conformational changes in the El active site induced by phosphorylation, 2) decipher the mechanisms by which MSUD mutations may interfere with hydrophobic-core packing, and subunit interactions in El, and develop strategies to mitigate these putative folding defects, 3) define structural determinants in the binding domain of E2 for interactions with El and E3, and determine the three-dimensional structure of the human BCKD complex. Information derived from these studies should increase our understanding of the structure/function and macromolecular assembly of the BCKD complex and help develop more effective therapies for MSUD. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MAPLE SYRUP URINE DISEASE Principal Investigator & Institution: Danner, Dean; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002 Summary: No research subjects are admitted to the GCRC under this protocol. It utilizes the Molecular Cell Biology Lab to transform and store immortal Epstein-Barr virus lymphocyte cell lines from patient samples sent directly to the lab. The cell lines then serve as a permanent DNA/RNA resource, as well as an in vitro model system for molecular genetics. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MONOCARBOXYLIC ACIDS AND AMINO ACIDS IN BRAIN METABOLISM AND TRAFFICKING Principal Investigator & Institution: Mckenna, Mary C.; University of Maryland Balt Prof School Baltimore, Md 21201 Timing: Fiscal Year 2002 Summary: Studies in Project II address the hypothesis that it is crucial for the brain to maintain the proper balance of production and utilization of lactate since this monocarboxylic acid is a key substrate in both developing brain and mature brain. Impairment in transport of lactate or ketone bodies into brain may limit the use of these key substrates for energy and neurotransmitter biosynthesis in developing brain in Phenylketonuria (PKU) and Maple Syrup Urine Disease. Conversely, an elevated concentration of lactate in cerebrospinal fluid and/or brain tissue is a prominent feature in Leigh's disease, a condition associated with mental retardation. There is evidence that amino acid and monocarboxylic acid metabolism are intimately and dynamically interconnected. A substantial portion of lactate, particularly in the cerebellum, is formed from glutamate and glutamine metabolized via the TCA cycle an converted to pyruvate via malic enzyme. Specifically, labeled precursors and 13/C-NMR will be used to

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determine the relative importance of the amino acids glutamate and glutamine as precursors for lactate production in astrocytes and neurons. The relative contribution of lactate and ketone bodies to neurotransmitter biosynthesis in cortical neurons, cerebellar granule cells, and in the PAHenu2 mouse (which has the same mutation of humans with PKU) will be determine. Glial/neuronal trafficking of substrates in the PKU mouse brain will be evaluated using [1- 13C]glucose and [2-/13C]acetate. Inhibition of TCA cycle activity with fluorocitrate will be used as a model for Leigh's disease. If a significant portion of the lactate in conditions with cerebral lactic acidosis is synthesize from amino acids, modulating lactate production by this biosynthetic pathway would require different therapeutic strategies than if it was produced via glycolysis. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.3 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with maple syrup urine disease, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “maple syrup urine disease” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for maple syrup urine disease (hyperlinks lead to article summaries): •

750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease. Author(s): Holmes E, Foxall PJ, Spraul M, Farrant RD, Nicholson JK, Lindon JC. Source: Journal of Pharmaceutical and Biomedical Analysis. 1997 July; 15(11): 1647-59. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9260660

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A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Author(s): Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT. Source: Biochemical and Biophysical Research Communications. 1991 January 31; 174(2): 804-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1847055

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PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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A case of classical maple syrup urine disease "thiamine non-responsive". Author(s): Wong PW, Justice P, Smith GF, Hsia DY. Source: Clinical Genetics. 1972; 3(1): 27-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5066975

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A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission. Author(s): Kultursay N, Kutukculer N, Buyukgebiz B, Kleijer WJ. Source: Acta Paediatr Jpn. 1994 June; 36(3): 284-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8091979

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A case of reversible blindness in maple syrup urine disease. Author(s): Backhouse O, Leitch RJ, Thompson D, Kriss A, Charris D, Clayton P, RussellEggitt I. Source: The British Journal of Ophthalmology. 1999 February; 83(2): 250-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10396207

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A dermatitis secondary to amino-acid deficiency in treated maple syrup urine disease. Author(s): Koch SE, Koch TK, Williams ML. Source: Archives of Pediatrics & Adolescent Medicine. 1994 September; 148(9): 993-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7802785

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A distinct variant of intermediate maple syrup urine disease. Author(s): Gonzalez-Rios MC, Chuang DT, Cox RP, Schmidt K, Knopf K, Packman S. Source: Clinical Genetics. 1985 February; 27(2): 153-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3978850

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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation. Author(s): Schulman JD, Lustberg TJ, Kennedy JL, Museles M, Seegmiller JE. Source: The American Journal of Medicine. 1970 July; 49(1): 118-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5431474

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A new variety of maple syrup urine disease. Author(s): Harkness RA, Cockburn F, Grant M, Giles MM, Turner TL, Darling JA. Source: Annals of Clinical Biochemistry. 1977 May; 14(3): 146-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=869494

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A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. Author(s): Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N Jr, Carmi R. Source: Human Mutation. 1998; 12(2): 136. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10694918

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A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease. Author(s): Fensom AH, Benson PF, Baker JE. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1978 July 1; 87(1): 169-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=668138

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A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease. Author(s): Indo Y, Kitano A, Akaboshi I, Endo F, Matsuda I. Source: Journal of Inherited Metabolic Disease. 1987; 10(3): 281-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3123794

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Abnormal dendritic development in maple syrup urine disease. Author(s): Kamei A, Takashima S, Chan F, Becker LE. Source: Pediatric Neurology. 1992 March-April; 8(2): 145-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1580959

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Abnormal protein and lipid compositions of the cerebral myelin of a patient with maple syrup urine disease. Author(s): Taketomi T, Kunishita T, Hara A, Mizushima S. Source: Jpn J Exp Med. 1983 April; 53(2): 109-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6663802

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Abnormalities of muscle fibers in maple syrup urine disease. Author(s): Ferriere G, de Castro M, Rodriguez J. Source: Acta Neuropathologica. 1984; 63(3): 249-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6464680

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Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. Author(s): Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ. Source: The Journal of Clinical Investigation. 1985 March; 75(3): 858-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3980729

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Acidosis associated with dietotherapy of maple syrup urine disease. Author(s): Foreman JW, Yudkoff M, Berry G, Segal S. Source: The Journal of Pediatrics. 1980 January; 96(1): 62-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7350316

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Acrodermatitis enteropathica-like eruption during treatment of maple syrup urine disease: report of one case. Author(s): Tain YL, Huang SC, Hung FC, Wang HS, Sun PC. Source: Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 September-October; 37(5): 357-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8942030

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Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. Author(s): Giacoia GP, Berry GT. Source: Am J Dis Child. 1993 September; 147(9): 954-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8362810

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Acute axonal neuropathy in maple syrup urine disease. Author(s): Kleopa KA, Raizen DM, Friedrich CA, Brown MJ, Bird SJ. Source: Muscle & Nerve. 2001 February; 24(2): 284-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11180212

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Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. Author(s): Thompson GN, Francis DE, Halliday D. Source: The Journal of Pediatrics. 1991 July; 119(1 ( Pt 1)): 35-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2066856

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Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism. Author(s): Matthews DE, Ben-Galim E, Haymond MW, Bier DM. Source: Pediatric Research. 1980 July; 14(7): 854-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7413299

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Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease. Author(s): Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I. Source: The Journal of Clinical Investigation. 1987 July; 80(1): 63-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3597778

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An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease. Author(s): Ihara K, Kuromaru R, Inoue Y, Kuhara T, Matsumoto I, Yoshino M, Fukushige J. Source: European Journal of Pediatrics. 1997 September; 156(9): 713-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9296536

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An asymptomatic variant of maple syrup urine disease without organic aciduria. Author(s): Cabello ML, Garcia AM, Dalmau J, Dominguez C, Conde C. Source: Journal of Inherited Metabolic Disease. 1994; 17(1): 115-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8051917

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Anaesthetic management in maple syrup urine disease. Author(s): Kahraman S, Ercan M, Akkus O, Ercelen O, Erdem K, Coskun T. Source: Anaesthesia. 1996 June; 51(6): 575-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8694213

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Analysis of maple syrup urine disease in cell culture: use of substrates. Author(s): Schadewaldt P, Beck K, Wendel U. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1989 September 15; 184(1): 47-56. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2598467

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Antenatal diagnosis of maple syrup urine disease. Author(s): Lyon IC, Parslow MI. Source: Aust Paediatr J. 1979 September; 15(3): 183. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=518415

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Antenatal diagnosis of maple syrup urine disease. Author(s): Hoo JJ, Latta E, Schaumloffel E. Source: Z Kinderheilkd. 1974; 118(3): 225-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4446690

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Atypical case of leucinosis (maple syrup urine disease). Author(s): Hagberg B, Hambraeus L. Source: Acta Paediatr Scand. 1971 January; 60(1): 103. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5100310

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Biochemical basis of thiamin-responsive maple syrup urine disease. Author(s): Chuang DT, Ku LS, Cox RP. Source: Trans Assoc Am Physicians. 1982; 95: 196-204. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7182976

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Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel. Author(s): Wynn RM, Chuang JL, Sansaricq C, Mandel H, Chuang DT. Source: The Journal of Biological Chemistry. 2001 September 28; 276(39): 36550-6. Epub 2001 July 11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11448970

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Brain lipids, proteolipids, and free amino acids in maple syrup urine disease. Author(s): Prensky AL, Moser HW. Source: Journal of Neurochemistry. 1966 September; 13(9): 863-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5928229

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Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease. Author(s): Herring WJ, McKean M, Dracopoli N, Danner DJ. Source: Biochimica Et Biophysica Acta. 1992 March 20; 1138(3): 236-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1547285

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Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease. Author(s): Jouvet P, Rustin P, Taylor DL, Pocock JM, Felderhoff-Mueser U, Mazarakis ND, Sarraf C, Joashi U, Kozma M, Greenwood K, Edwards AD, Mehmet H. Source: Molecular Biology of the Cell. 2000 May; 11(5): 1919-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10793161

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Branched chain ketoaciduria (maple syrup urine disease). Author(s): Snyderman SE. Source: Clin Perinatol. 1976 March; 3(1): 41-52. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=954344

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Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease. Author(s): Lancaster G, Mamer OA, Scriver CR. Source: Metabolism: Clinical and Experimental. 1974 March; 23(3): 257-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4813956

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Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. Author(s): Berry GT, Heidenreich R, Kaplan P, Levine F, Mazur A, Palmieri MJ, Yudkoff M, Segal S. Source: The New England Journal of Medicine. 1991 January 17; 324(3): 175-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1898534

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Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. Author(s): Bodner-Leidecker A, Wendel U, Saudubray JM, Schadewaldt P. Source: Journal of Inherited Metabolic Disease. 2000 December; 23(8): 805-18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11196106

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Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community. Author(s): Love-Gregory LD, Dyer JA, Grasela J, Hillman RE, Phillips CL. Source: Journal of Inherited Metabolic Disease. 2001 June; 24(3): 393-403. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11486905

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Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. Author(s): Van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA. Source: American Journal of Medical Genetics. 1992 November 15; 44(5): 641-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1481826

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cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Author(s): Zhang B, Kuntz MJ, Goodwin GW, Edenberg HJ, Crabb DW, Harris RA. Source: Annals of the New York Academy of Sciences. 1989; 573: 130-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2634344

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Cerebral computed tomography in maple syrup urine disease. Author(s): Romero FJ, Ibarra B, Rovira M, Natal A, Herrera M, Segarra A. Source: Journal of Computer Assisted Tomography. 1984 June; 8(3): 410-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6609940

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Cerebral edema causing death in children with maple syrup urine disease. Author(s): Riviello JJ Jr, Rezvani I, DiGeorge AM, Foley CM. Source: The Journal of Pediatrics. 1991 July; 119(1 ( Pt 1)): 42-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2066857

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Cerebral edema in maple syrup urine disease. Author(s): Levin ML, Scheimann A, Lewis RA, Beaudet AL. Source: The Journal of Pediatrics. 1993 January; 122(1): 167-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8419609

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Cerebral edema in maple syrup urine disease. Author(s): Lungarotti MS, Calabro A, Signorini E, Garibaldi LR. Source: Am J Dis Child. 1982 July; 136(7): 648. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7091101

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Cerebral palsy associated with maple syrup urine disease. Author(s): Davidson RS, Carroll NC. Source: Journal of Pediatric Orthopedics. 1982 June; 2(2): 165-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7107873

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Changes in the auditory nerve brainstem evoked responses in a case of maple syrup urine disease. Author(s): Geal-Dor M, Adelman C, Levi H, Goitein K, Sohmer H. Source: Developmental Medicine and Child Neurology. 2004 March; 46(3): 184-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14995088

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Classical maple syrup urine disease: cofactor resistance. Author(s): Elsas LJ, Pask BA, Wheeler FB, Perl DP, Truster S. Source: Metabolism: Clinical and Experimental. 1972 October; 21(10): 929-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4342010

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Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease. Author(s): McMahon Y, MacDonnell RC Jr. Source: Adv Perit Dial. 1990; 6: 31-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1982835

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Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Author(s): Jouvet P, Jugie M, Rabier D, Desgres J, Hubert P, Saudubray JM, Man NK. Source: Intensive Care Medicine. 2001 November; 27(11): 1798-806. Epub 2001 October 25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11810125

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Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease. Author(s): Jinno Y, Akaboshi I, Matsuda I. Source: Human Genetics. 1984; 68(1): 54-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6500555

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Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Author(s): Lyons LB, Cox RP, Dancis J. Source: Nature. 1973 June 29; 243(5409): 533-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4355237

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Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer. Author(s): Mueller GM, McKenzie LR, Homanics GE, Watkins SC, Robbins PD, Paul HS. Source: Gene Therapy. 1995 September; 2(7): 461-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7584124

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Computed tomography findings in maple syrup urine disease. Author(s): Ong LC, Khoo TB, Zulfiqar A, Zarida H, Ruzana A. Source: Singapore Med J. 1998 August; 39(8): 370-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9844500

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Computed tomography in maple syrup urine disease. Author(s): Taccone A, Schiaffino MC, Cerone R, Fondelli MP, Romano C. Source: European Journal of Radiology. 1992 May-June; 14(3): 207-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1563430

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Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency. Author(s): Munnich A, Saudubray JM, Taylor J, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH. Source: Acta Paediatr Scand. 1982 January; 71(1): 167-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6897145

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Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease. Author(s): Jouvet P, Poggi F, Rabier D, Michel JL, Hubert P, Sposito M, Saudubray JM, Man NK. Source: Journal of Inherited Metabolic Disease. 1997 August; 20(4): 463-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9266382

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Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease. Author(s): Land JM, Mowbray J, Clark JB. Source: Journal of Neurochemistry. 1976 April; 26(4): 823-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=987160

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Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease. Author(s): Tornqvist K, Tornqvist H. Source: Acta Ophthalmologica Scandinavica. Supplement. 1996; (219): 48-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8741119

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Correlations between branched-chain amino acids and branched-chain alpha-keto acids in blood in maple syrup urine disease. Author(s): Langenbeck U, Wendel U, Mench-Hoinowski A, Kuschel D, Becker K, Przyrembel H, Bremer HJ. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1978 September 1; 88(2): 283-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=699323

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Cranial computed tomography in a patient with a variant form of maple syrup urine disease. Author(s): Suzuki S, Naito H, Abe T, Nihei K. Source: Neuropediatrics. 1983 May; 14(2): 102-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6877525

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Cranial ultrasonography in maple syrup urine disease. Author(s): Fariello G, Dionisi-Vici C, Orazi C, Malena S, Bartuli A, Schingo P, Carnevale E, Saponara I, Sabetta G. Source: Ajnr. American Journal of Neuroradiology. 1996 February; 17(2): 311-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8938303

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Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Author(s): AEvarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG. Source: Structure with Folding & Design. 2000 March 15; 8(3): 277-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10745006

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CT and MRI in maple syrup urine disease. Author(s): Uziel G, Savoiardo M, Nardocci N. Source: Neurology. 1988 March; 38(3): 486-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3347354

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Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease. Author(s): Ruch T, Kerr D. Source: The American Journal of Clinical Nutrition. 1982 February; 35(2): 217-28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7064884

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Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease. Author(s): Rudiger HW, Langenbeck U, Schulze-Schencking M, Goedde HW. Source: Humangenetik. 1972; 14(4): 257-63. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5051750

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Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease. Author(s): Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I. Source: Biochimica Et Biophysica Acta. 1994 February 22; 1225(3): 317-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8312380

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Detection of maple syrup urine disease on resin coated chromatosheets. Author(s): Kovacs J. Source: Acta Biochim Biophys Acad Sci Hung. 1979; 14(3): 119-21. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=547666

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Determination of (S)- and (R)-2-oxo-3-methylvaleric acid in plasma of patients with maple syrup urine disease. Author(s): Wendel U, Even G, Langenbeck U, Schadewaldt P, Hummel W. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1992 June 15; 208(1-2): 85-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1638756

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Developmental profile of patients with maple syrup urine disease. Author(s): Nord A, van Doorninck WJ, Greene C. Source: Journal of Inherited Metabolic Disease. 1991; 14(6): 881-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1723442

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Diagnosis and mutational analysis of maple syrup urine disease using cell cultures. Author(s): Chuang JL, Chuang DT. Source: Methods Enzymol. 2000; 324: 413-23. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10989449

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Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, Lleucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry. Author(s): Deng C, Deng Y. Source: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 2003 July 25; 792(2): 261-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12860033

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Dietary treatment of maple syrup urine disease. Author(s): Westall RG. Source: Am J Dis Child. 1967 January; 113(1): 58-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6015906

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Diffusion magnetic resonance imaging in intermediate form of maple syrup urine disease. Author(s): Sener RN. Source: Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. 2002 October; 12(4): 368-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12380485

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Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Author(s): Cavalleri F, Berardi A, Burlina AB, Ferrari F, Mavilla L. Source: Neuroradiology. 2002 June; 44(6): 499-502. Epub 2002 April 24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12070724

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Diurnal changes in plasma amino acids in maple syrup urine disease. Author(s): Schwahn B, Wendel U, Schadewaldt P, Falkenberg N, Monch E. Source: Acta Paediatrica (Oslo, Norway : 1992). 1998 December; 87(12): 1245-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9894823

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E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamineresponsive phenotype. Author(s): Chuang JL, Cox RP, Chuang DT. Source: The Journal of Clinical Investigation. 1997 August 1; 100(3): 736-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9239422

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Early diagnosis and dietetic management in newborn with maple syrup urine disease. Birth to six weeks. Author(s): Naughten ER, Saul IP, Roche G, Mullins C. Source: Journal of Inherited Metabolic Disease. 1985; 8 Suppl 2: 131-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3930864

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Effect of insulin on leucine kinetics in maple syrup urine disease. Author(s): Collins JE, Umpleby AM, Boroujerdi MA, Leonard JV, Sonksen PH. Source: Pediatric Research. 1987 January; 21(1): 10-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3540829

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Effects of abnormal metabolites of maple syrup urine disease on neurotransmitter receptor binding. Author(s): Dwivedi C, James EC, Parmar SS. Source: Biochemical Medicine and Metabolic Biology. 1986 June; 35(3): 275-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3013257

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Effects of maple syrup urine disease metabolites on mouse L-fibroblasts in vitro: a fine structural and biochemical study. Author(s): Bissell MG, Bensch KG, Herman MM. Source: Journal of Neurochemistry. 1974 June; 22(6): 957-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4859303

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Electroencephalograms in a case of maple syrup urine disease: their relation to serum levels of branched-chain amino acids. Author(s): Iinuma K, Saito T, Wada Y, Onuma A, Takamatsu N. Source: The Tohoku Journal of Experimental Medicine. 1976 October; 120(2): 191-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=982436

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Elevated excretion of N-acetylated branched-chain amino acids in maple syrup urine disease. Author(s): Lehnert W, Werle E. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1988 February 29; 172(1): 123-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3359650

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ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. Author(s): Wu JY, Kao HJ, Li SC, Stevens R, Hillman S, Millington D, Chen YT. Source: The Journal of Clinical Investigation. 2004 February; 113(3): 434-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14755340

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Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients. Author(s): Burgos C, Civallero GE, de Kremer RD, Gerez de Burgos NM, Blanco A. Source: Acta Physiol Pharmacol Ther Latinoam. 1999; 49(2): 109-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10797848

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Enzyme activity in classical and variant forms of maple syrup urine disease. Author(s): Dancis J, Hutzler J, Snyderman SE, Cox RP. Source: The Journal of Pediatrics. 1972 August; 81(2): 312-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5042489

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Enzyme assays with mutant cell lines of maple syrup urine disease. Author(s): Chuang DT, Cox RP. Source: Methods Enzymol. 1988; 166: 135-46. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3071697

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Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts. Author(s): Langenbeck U, Rudiger HW, Schulze-Schencking M, Keller W, Brackertz D, Goedde HW. Source: Humangenetik. 1971; 11(4): 304-15. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5550595

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Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria. Author(s): Parsons HG, Carter RJ, Unrath M, Snyder FF. Source: Journal of Inherited Metabolic Disease. 1990; 13(2): 125-36. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2116544

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Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. Author(s): Zhang B, Edenberg HJ, Crabb DW, Harris RA. Source: The Journal of Clinical Investigation. 1989 April; 83(4): 1425-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2703538

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Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients. Author(s): Love-Gregory LD, Grasela J, Hillman RE, Phillips CL. Source: Molecular Genetics and Metabolism. 2002 January; 75(1): 79-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11825067

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Exchange transfusion in acute episodes of maple syrup urine disease. Studies on branched-chain amino and keto acids. Author(s): Wendel U, Langenbeck U, Lombeck I, Bremer HJ. Source: European Journal of Pediatrics. 1982 July; 138(4): 293-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7128634

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Exfoliative erythroderma resulting from inadequate intake of branched-chain amino acids in infants with maple syrup urine disease. Author(s): Northrup H, Sigman ES, Hebert AA. Source: Archives of Dermatology. 1993 March; 129(3): 384-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8447687

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Family with intermittent maple syrup urine disease. Author(s): Valman HB, Patrick AD, Seakins JW, Platt JW, Gompertz D. Source: Archives of Disease in Childhood. 1973 March; 48(3): 225-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4693464

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First-trimester diagnosis of maple syrup urine disease on intact chorionic villi. Author(s): Kleijer WJ, Horsman D, Mancini GM, Fois A, Boue J. Source: The New England Journal of Medicine. 1985 December 19; 313(25): 1608. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4069174

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Functional differences in the catabolism of branched-chain L-amino acids in cultured normal and maple syrup urine disease fibroblasts. Author(s): Schadewaldt P, Wendel U. Source: Biochemical Medicine and Metabolic Biology. 1989 April; 41(2): 105-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2719855

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Further observations on the biochemical lesion in maple syrup urine disease. Author(s): Dreyfus PM, Prensky AL. Source: Nature. 1967 April 15; 214(85): 276. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6034241

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Gene analysis of Mennonite maple syrup urine disease kindred using primerspecified restriction map modification. Author(s): Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S. Source: Journal of Inherited Metabolic Disease. 1992; 15(2): 181-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1356170

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Gene preference in maple syrup urine disease. Author(s): Nellis MM, Danner DJ. Source: American Journal of Human Genetics. 2001 January; 68(1): 232-7. Epub 2000 December 07. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11112664

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Glucose and alanine metabolism in children with maple syrup urine disease. Author(s): Haymond MW, Ben-Galim E, Strobel KE. Source: The Journal of Clinical Investigation. 1978 August; 62(2): 398-405. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=670400

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Hairs from patients with maple syrup urine disease show a structural defect in the fiber cuticle. Author(s): Jones LN, Peet DJ, Danks DM, Negri AP, Rivett DE. Source: The Journal of Investigative Dermatology. 1996 March; 106(3): 461-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8648177

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Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts. Author(s): Singh S, Willers I, Goedde HW. Source: Clinical Genetics. 1977 April; 11(4): 277-84. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=192504

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Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alphaketo-acid dehydrogenase multienzyme complex. Author(s): Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I. Source: Biochimica Et Biophysica Acta. 1993 November 25; 1225(1): 64-70. Erratum In: Biochim Biophys Acta 1994 April 12; 1226(1): 115. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8161368

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Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem. Author(s): Langenbeck U, Grimm T, Rudiger HW, Passarge E. Source: Humangenetik. 1975; 27(4): 315-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1150251

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Hypoglycaemia in classical maple syrup urine disease is not due to hyperinsulinism. Author(s): Soltesz G, Jenkins PA, Aynsley-Green A. Source: Journal of Inherited Metabolic Disease. 1983; 6(4): 178. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6422159

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Hypoglycemia and maple syrup urine disease: defective gluconeogenesis. Author(s): Haymond MW, Karl IE, Feigin RD, DeVivo D, Pagliara AS. Source: Pediatric Research. 1973 May; 7(5): 500-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4704742

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Hypoglycemia in maple syrup urine disease. Author(s): Donnell GN, Lieberman E, Shaw KN, Koch R. Source: Am J Dis Child. 1967 January; 113(1): 60-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6015907

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Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Author(s): Henneke M, Flaschker N, Helbling C, Muller M, Schadewaldt P, Gartner J, Wendel U. Source: Human Mutation. 2003 November; 22(5): 417. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14517957

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Immunosuppressive effects of organic acids accumulating in patients with maple syrup urine disease. Author(s): Wajner M, Schlottfeldt JL, Ckless K, Wannmacher CM. Source: Journal of Inherited Metabolic Disease. 1995; 18(2): 165-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7564237

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Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease. Author(s): Wynn RM, Davie JR, Chuang JL, Cote CD, Chuang DT. Source: The Journal of Biological Chemistry. 1998 May 22; 273(21): 13110-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9582350

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Inhibition of brain energy metabolism by the alpha-keto acids accumulating in maple syrup urine disease. Author(s): Sgaravatti AM, Rosa RB, Schuck PF, Ribeiro CA, Wannmacher CM, Wyse AT, Dutra-Filho CS, Wajner M. Source: Biochimica Et Biophysica Acta. 2003 November 20; 1639(3): 232-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14636955

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Intellectual outcome in children with maple syrup urine disease. Author(s): Kaplan P, Mazur A, Field M, Berlin JA, Berry GT, Heidenreich R, Yudkoff M, Segal S. Source: The Journal of Pediatrics. 1991 July; 119(1 ( Pt 1)): 46-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2066858

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Intellectual performance of children with maple syrup urine disease. Author(s): Hilliges C, Awiszus D, Wendel U. Source: European Journal of Pediatrics. 1993 February; 152(2): 144-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8444223

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Intermittent branched chain ketonuria (variant of maple syrup urine disease). Author(s): Irwin WC, Martel SB, Goluboff N. Source: Clinical Biochemistry. 1971 June; 4(2): 52-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5128296

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Intermittent form of maple syrup urine disease: report of one case. Author(s): Li PH, Ma JS, Chi CS, Mak SC. Source: Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 November-December; 38(6): 468-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9473820

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Intermittent maple syrup urine disease: a case report. Author(s): Ghodsi A, Ajudani TS, Gharavi M, Hatefi GV. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1977 May 21; 51(21): 758-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=877799

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Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant. Author(s): Holmgren G, Brundin A, Gustavson KH, Sjogren S, Kleijer WJ, Niermeijer MF. Source: Neuropediatrics. 1980 November; 11(4): 377-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7207707

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Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. Author(s): Wendel U, Langenbeck U, Seakins JW. Source: Pediatric Research. 1989 January; 25(1): 11-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2919111

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Intracellular levels and metabolism of leucine and alpha-ketoisocaproate in normal and maple syrup urine disease fibroblasts. Author(s): Wendel U, Langenbeck U. Source: Biochem Med. 1984 June; 31(3): 294-302. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6477534

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Is demyelination a feature of maple syrup urine disease? Author(s): Muller K, Kahn T, Wendel U. Source: Pediatric Neurology. 1993 September-October; 9(5): 375-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8292212

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Late-onset branched-chain ketoaciduria: (maple syrup urine disease). Author(s): Morris MD, Fisher DA, Fiser R. Source: J Lancet. 1966 March; 86(3): 149-52. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5904649

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Letter: Historical observation in maple syrup urine disease. Author(s): Shih VE, Mandell R, Scholl ML. Source: The Journal of Pediatrics. 1974 December; 85(6): 868-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4419958

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Liver transplantation in maple syrup urine disease. Author(s): Wendel U, Saudubray JM, Bodner A, Schadewaldt P. Source: European Journal of Pediatrics. 1999 December; 158 Suppl 2: S60-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10603101

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Low-dosage immunoglobulins for an infant with hypogammaglobulinemia, maple syrup urine disease, and parvovirus B19-associated aplastic crisis. Author(s): D'Eufemia P, Nigro G, Celli M, Finocchiaro R, Iannetti P, Giardini O. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 2000 September-October; 22(5): 485-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11037872

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Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case. Author(s): Lin MC, Chen CH, Fu LS, Jan SL, Shu SG, Chi CS. Source: Acta Paediatr Taiwan. 2002 September-October; 43(5): 281-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12607485

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Maple syrup urine disease (branched chain ketoaciduria). Author(s): Harper PA, Healy PJ, Dennis JA. Source: American Journal of Pathology. 1990 June; 136(6): 1445-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2356868

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Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases. Author(s): Kalyanaraman K, Chamukuttan S, Arjundas G, Gajanan N, Ramamurthi B. Source: Journal of the Neurological Sciences. 1972 February; 15(2): 209-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5010106

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Maple syrup urine disease (MSUD): screening for known mutations in Italian patients. Author(s): Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G, Ponzone A, Guardamagna O, Burlina AB, Cerone R, et al. Source: Journal of Inherited Metabolic Disease. 1994; 17(6): 652-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7707687

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Maple syrup urine disease 1954 to 1993. Author(s): Peinemann F, Danner DJ. Source: Journal of Inherited Metabolic Disease. 1994; 17(1): 3-15. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8051937

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Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI. Author(s): Ha JS, Kim TK, Eun BL, Lee HS, Lee KY, Seol HY, Cha SH. Source: Pediatric Radiology. 2004 February; 34(2): 163-6. Epub 2003 September 18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14504844

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Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis. Author(s): Potashnik R, Carmi R, Sofer S, Bashan N, Abeliovich D. Source: Isr J Med Sci. 1987 August; 23(8): 886-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3679791

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Maple syrup urine disease in an infant with microgyria. Author(s): Martin JK, Norman RM. Source: Developmental Medicine and Child Neurology. 1967 April; 9(2): 152-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6059316

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Maple syrup urine disease in Chinese. Author(s): Feng KP, Chow KW, Chan YP. Source: Chinese Medical Journal. 1986 February; 99(2): 119-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3093158

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Maple syrup urine disease in Hong Kong. Author(s): Pang CP, Ng CF. Source: Aust Paediatr J. 1987 June; 23(3): 205. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3662985

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Maple syrup urine disease in Indian baby: branched chain amino and ketoaciduria. Author(s): Dastur DK, Manghani DK, Joshi MK, Adavi SV. Source: The Indian Journal of Medical Research. 1966 October; 54(10): 915-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5976996

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Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. Author(s): Fisher CR, Chuang JL, Cox RP, Fisher CW, Star RA, Chuang DT. Source: The Journal of Clinical Investigation. 1991 September; 88(3): 1034-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1885764

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Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. Author(s): Chi CS, Tsai CR, Chen LH, Lee HF, Mak BS, Yang SH, Wang TY, Shu SG, Chen CH. Source: European Journal of Human Genetics : Ejhg. 2003 December; 11(12): 931-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14508502

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Maple syrup urine disease metabolites induce apoptosis in neural cells without cytochrome c release or changes in mitochondrial membrane potential. Author(s): Jouvet P, Rustin P, Felderhoff U, Pocock J, Joashi U, Mazarakis ND, Sarraf C, Edwards AD, Mehmet H. Source: Biochemical Society Transactions. 1998 November; 26(4): S341. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10047855

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Maple syrup urine disease metabolites studies in cerebellum cultures. Author(s): Silberberg DH. Source: Journal of Neurochemistry. 1969 July; 16(7): 1141-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5816072

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Maple syrup urine disease presenting with neonatal status epilepticus: report of one case. Author(s): Wang IJ, Chu SY, Wang CY, Wang PJ, Hwu WL. Source: Acta Paediatr Taiwan. 2003 July-August; 44(4): 246-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14674232

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Maple syrup urine disease variant form: presentation with psychomotor retardation and CT scan abnormalities. Author(s): Verdu A, Lopez-Herce J, Pascual-Castroviejo I, Martinez-Bermejo A, Ugarte M, Garcia MJ. Source: Acta Paediatr Scand. 1985 September; 74(5): 815-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4050430

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Maple syrup urine disease variant. Report of a case. Author(s): Gretter TE, Lonsdale D, Mercer RD, Robinson C, Shamberger RJ. Source: Cleve Clin Q. 1972 Fall; 39(3): 129-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5084379

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Maple syrup urine disease variant: report on an infant. Author(s): Koepp P, Rybak C, Rudiger HW, Wendel U. Source: Z Kinderheilkd. 1974 February 11; 116(3): 177-84. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4813457

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Maple syrup urine disease variant--amino acid pattern and problems of treatment during acute attacks. Author(s): Steen-Johnsen J, Vellan EJ, Gjessing LR. Source: Acta Paediatr Scand Suppl. 1970; 206: Suppl 206: 71+. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5277001

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Maple syrup urine disease with increased intracranial pressure. Author(s): Mikati MA, Dudin GE, Der Kaloustian VM, Benson PF, Fensom AH. Source: Am J Dis Child. 1982 July; 136(7): 642-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7091097

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Maple syrup urine disease. Author(s): Phungrassanee V. Source: Proc Inst Med Chic. 1971 July; 28(10): 442-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5119570

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Maple syrup urine disease. Author(s): Komrower GM. Source: Developmental Medicine and Child Neurology. 1968 August; 10(4): 522-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5681564

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Maple syrup urine disease. Author(s): Hatcher GW. Source: Proc R Soc Med. 1968 March; 61(3): 287. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5645967

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Maple syrup urine disease. Author(s): Voyce MA, Montgomery JN, Crome L, Bowman J, Ireland JT. Source: J Ment Defic Res. 1967 December; 11(4): 231-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5582924

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Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Author(s): Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I. Source: The Journal of Clinical Investigation. 1991 May; 87(5): 1862-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2022752

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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. Author(s): Nobukuni Y, Mitsubuchi H, Endo F, Akaboshi I, Asaka J, Matsuda I. Source: The Journal of Clinical Investigation. 1990 July; 86(1): 242-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2365818

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Maple syrup urine disease. Four years' experience with dietary treatment of a case. Author(s): Dickinson JP, Holton JB, Lewis GM, Littlewood JM, Steel AE. Source: Acta Paediatr Scand. 1969 July; 58(4): 341-51. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5824823

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Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report). Author(s): Kannan V, Subramanyam K. Source: J Assoc Physicians India. 1977 February; 25(2): 163-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=914742

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Maple syrup urine disease. Two cases in Israel. Author(s): Chemke J, Levin S. Source: Isr J Med Sci. 1975 August; 11(8): 809-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1165176

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Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity. Author(s): Indo Y, Akaboshi I, Nobukuni Y, Endo F, Matsuda I. Source: Human Genetics. 1988 September; 80(1): 6-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3417306

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Maple syrup urine disease: alpha-ketoisocaproate decarboxylation activity in different types of cultured amniotic fluid cells. Author(s): Wendel U, Gamm G, Claussen U. Source: Prenatal Diagnosis. 1981 October; 1(4): 235-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7346826

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Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts. Author(s): Wendel U, Wentrup H, Rudiger HW. Source: Pediatric Research. 1975 September; 9(9): 709-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1202420

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Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts. Author(s): Skaper SD, Molden DP, Seegmiller JE. Source: Biochemical Genetics. 1976 August; 14(7-8): 527-39. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=985377

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Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids. Author(s): Dancis J, Hutzler J, Cox RP. Source: American Journal of Human Genetics. 1977 May; 29(3): 272-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=868873

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Maple syrup urine disease: clinical and biochemical significance of gene analysis. Author(s): Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Matsuda I. Source: Journal of Inherited Metabolic Disease. 1991; 14(5): 787-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1664011

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Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Author(s): Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B. Source: The International Journal of Neuroscience. 1994 November; 79(1-2): 21-45. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7744549

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Maple syrup urine disease: coenzyme function and prenatal monitoring. Author(s): Elsas LJ, Priest JH, Wheeler FB, Danner DJ, Pask BA. Source: Metabolism: Clinical and Experimental. 1974 June; 23(6): 569-79. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4857216

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Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. Author(s): Parmar H, Sitoh YY, Ho L. Source: Journal of Computer Assisted Tomography. 2004 January-February; 28(1): 93-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14716239

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Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Author(s): Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP. Source: Mol Biol Med. 1991 February; 8(1): 49-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1943690

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Maple syrup urine disease: emergency treatment of the neonate. Author(s): Hammersen G, Wille L, Schmidt H, Lutz P, Bickel H. Source: Monogr Hum Genet. 1978; 9: 84-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=104150

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Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. Author(s): Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. Source: Ajnr. American Journal of Neuroradiology. 1990 November-December; 11(6): 1219-28. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2124065

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Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Author(s): Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Source: American Journal of Human Genetics. 2001 October; 69(4): 863-8. Epub 2001 August 16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11509994

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Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. Author(s): Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR. Source: Journal of Inherited Metabolic Disease. 1992; 15(1): 121-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1583867

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Maple syrup urine disease: it has come a long way. Author(s): Chuang DT. Source: The Journal of Pediatrics. 1998 March; 132(3 Pt 2): S17-23. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9546032

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Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Author(s): Felber SR, Sperl W, Chemelli A, Murr C, Wendel U. Source: Annals of Neurology. 1993 April; 33(4): 396-401. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8489211

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Maple syrup urine disease: mutation analysis in Turkish patients. Author(s): Dursun A, Henneke M, Ozgul K, Gartner J, Coskun T, Tokatli A, Kalkanoglu HS, Demirkol M, Wendel U, Ozalp I. Source: Journal of Inherited Metabolic Disease. 2002 May; 25(2): 89-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12118532

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Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip. Author(s): Koga Y, Iwanaga T, Yoshida I, Yoshino M, Kaneko S, Kato H. Source: Journal of Inherited Metabolic Disease. 1998 April; 21(2): 177-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9584272

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Maple syrup urine disease: rapid prenatal diagnosis by enzyme assay. Author(s): Wendel U, Rudiger HW, Passarge E, Mikkelsen M. Source: Humangenetik. 1973; 19(1): 127-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4725909

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Maple syrup urine disease: report of a case. Author(s): Rao GP, Ramanamurthy PS, Ghafoorunnisa, Rafeeq MR, Pathak R. Source: Indian Pediatrics. 1974 August; 11(8): 585-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4443061

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Maple syrup urine disease: report of two cases. Author(s): Yeung CY, Lin SP, Kao HA, Shen EY, Lee HC, Lin CH, Hsiao KJ. Source: J Formos Med Assoc. 1993 August; 92(8): 765-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7904856

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Maple syrup urine disease: response to dietary modifications. Author(s): Marshall JR, Gracy RW, Kester MV. Source: J Am Osteopath Assoc. 1979 September; 79(1): 98-104. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=489438

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Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences. Author(s): Chuang JL, Cox RP, Chuang DT. Source: American Journal of Human Genetics. 1996 June; 58(6): 1373-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8651316

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Maple syrup urine disease: treatment of the acutely ill newborn. Author(s): Hammersen G, Wille L, Schmidt H, Lutz P, Bickel H. Source: European Journal of Pediatrics. 1978 October 12; 129(3): 157-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=699921

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Maple syrup urine disease: two different forms within a single family. Author(s): Frezal J, Amedee-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray JM. Source: Human Genetics. 1985; 71(1): 89-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4029957

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Maple syrup urine disease--2-4 DPNH test as a routine in highly sick newborns. Author(s): Mangal N, Agarwal R, Miglani N, Vyas P. Source: Indian Pediatrics. 1994 November; 31(11): 1440-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7896355

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Maple syrup urine disease--a case report. Author(s): Reddy V, Reddy YR, Rao BS, Sivakumar B. Source: Indian Pediatrics. 1972 October; 9(10): 629-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4657784

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Maple syrup urine disease--therapeutic use of insulin in catabolic states. Author(s): Wendel U, Langenbeck U, Lombeck I, Bremer HJ. Source: European Journal of Pediatrics. 1982 November; 139(3): 172-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6761134

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Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. Author(s): Yoshida I, Sweetman L, Nyhan WL. Source: Pediatric Research. 1986 February; 20(2): 169-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3080729

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Metabolism of branched-chain amino acids in maple syrup urine disease. Author(s): Schadewaldt P, Wendel U. Source: European Journal of Pediatrics. 1997 August; 156 Suppl 1: S62-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9266218

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Mild variant of maple syrup urine disease. Author(s): Kovacs J, Kiss P. Source: Acta Paediatr Acad Sci Hung. 1978; 19(2): 137-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=707084

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Mild variant of maple syrup urine disease. Author(s): Kodama S, Seki A, Hanabusa M, Morisita Y, Sakurai T. Source: European Journal of Pediatrics. 1976 December 9; 124(1): 31-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1001326

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Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. Author(s): Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT. Source: The Journal of Clinical Investigation. 1995 March; 95(3): 954-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7883996

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Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. Author(s): Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y. Source: Journal of Human Genetics. 1998; 43(2): 91-100. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9621512

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Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer. Author(s): Chuang DT, Davie JR, Wynn RM, Chuang JL, Koyata H, Cox RP. Source: The Journal of Nutrition. 1995 June; 125(6 Suppl): 1766S-1772S. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7782943

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Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Author(s): Chuang JL, Fisher CR, Cox RP, Chuang DT. Source: American Journal of Human Genetics. 1994 August; 55(2): 297-304. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8037208

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Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. Author(s): Zhang B, Zhao Y, Harris RA, Crabb DW. Source: Mol Biol Med. 1991 February; 8(1): 39-47. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1943689

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Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex. Author(s): Nobukuni Y, Mitsubuchi H, Ohta K, Akaboshi I, Indo Y, Endo F, Matsuda I. Source: Journal of Inherited Metabolic Disease. 1992; 15(5): 827-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1434524

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Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. Author(s): Herring WJ, Litwer S, Weber JL, Danner DJ. Source: American Journal of Human Genetics. 1991 February; 48(2): 342-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1990841

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Molecular genetic characterization of maple syrup urine disease in European families. Author(s): Peinemann F, Wendel U, Danner DJ. Source: Biochemical Medicine and Metabolic Biology. 1993 December; 50(3): 338-45. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8123297

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Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. Author(s): Fisher CW, Chuang JL, Griffin TA, Lau KS, Cox RP, Chuang DT. Source: The Journal of Biological Chemistry. 1989 February 25; 264(6): 3448-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2914958

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Monoamine oxidase and catechol-o-methyltransferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls. Author(s): Singh S, Willers I, Kluss EM, Goedde HW. Source: Clinical Genetics. 1979 February; 15(2): 153-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=761415

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MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Author(s): Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM. Source: Neuroradiology. 2003 June; 45(6): 393-9. Epub 2003 May 08. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12736767

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Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease. Author(s): Schuchmann L, Witt I, Schulz P, Schumacher H, Rudiger H. Source: Helv Paediatr Acta. 1972 September; 27(4): 449-56. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4644280

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Myelin proteins: degradation in rat brain initiated by metabolites causative of maple syrup urine disease. Author(s): Tribble D, Shapira R. Source: Biochemical and Biophysical Research Communications. 1983 July 29; 114(2): 440-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6411085

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Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease. Author(s): Parini R, Sereni LP, Bagozzi DC, Corbetta C, Rabier D, Narcy C, Hubert P, Saudubray JM. Source: Pediatrics. 1993 August; 92(2): 280-3. Erratum In: Pediatrics 1993 November; 92(5): 722. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8337030

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Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease. Author(s): Song JL, Chuang DT. Source: The Journal of Biological Chemistry. 2001 October 26; 276(43): 40241-6. Epub 2001 August 15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11507102

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Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method. Author(s): Wendel U, Gonzales J, Hummel W. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1993 October 15; 219(1-2): 105-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8306450

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Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. Author(s): Antonozzi I, Dominici R, Andreoli M, Monaco F. Source: J Endocrinol Invest. 1980 October-December; 3(4): 357-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7204885

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New conjugated urinary metabolites in intermediate type maple syrup urine disease. Author(s): Hagenfeldt L, Naglo AS. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1987 October 30; 169(1): 77-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3677437

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Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Author(s): Naylor EW, Guthrie R. Source: Pediatrics. 1978 February; 61(2): 262-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=416414

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Newborn screening for maple syrup urine disease. Author(s): Snyderman SE, Sansaricq C. Source: The Journal of Pediatrics. 1985 August; 107(2): 259-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4020551

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Nursing care study. Maple syrup urine disease: quick diagnosis preserves a life. Author(s): Gracey BM. Source: Nurs Mirror. 1978 November 23; 147(21): 26-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=251299

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Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets. Author(s): Gropper SS, Naglak MC, Nardella M, Plyler A, Rarback S, Yannicelli S. Source: Journal of the American College of Nutrition. 1993 April; 12(2): 108-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8463509

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Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Author(s): Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP. Source: American Journal of Human Genetics. 1993 February; 52(2): 414-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8430702

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Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branchedchain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Author(s): Fisher CR, Fisher CW, Chuang DT, Cox RP. Source: American Journal of Human Genetics. 1991 August; 49(2): 429-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1867199

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On the mechanism of L-alloisoleucine formation: studies on a healthy subject and in fibroblasts from normals and patients with maple syrup urine disease. Author(s): Schadewaldt P, Hammen HW, Dalle-Feste C, Wendel U. Source: Journal of Inherited Metabolic Disease. 1990; 13(2): 137-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2116545

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On the mechanisms of the formation of L-alloisoleucine and the 2-hydroxy-3methylvaleric acid stereoisomers from L-isoleucine in maple syrup urine disease patients and in normal humans. Author(s): Mamer OA, Reimer ML. Source: The Journal of Biological Chemistry. 1992 November 5; 267(31): 22141-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1429566

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Ophthalmic findings in maple syrup urine disease. Author(s): Burke JP, O'Keefe M, Bowell R, Naughten ER. Source: Metab Pediatr Syst Ophthalmol. 1991; 14(1): 12-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1921719

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Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease. Author(s): Chhabria S, Tomasi LG, Wong PW. Source: Annals of Neurology. 1979 July; 6(1): 71-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=507761

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Ophthalmoplegia in maple syrup urine disease. Author(s): Gupta B, Waggoner D. Source: Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. 2003 August; 7(4): 300-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12917622

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Ophthalmoplegia in maple syrup urine disease. Author(s): Zee DS, Freeman JM, Holtzman NA. Source: The Journal of Pediatrics. 1974 January; 84(1): 113-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12119930

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Oral clinicopathologic manifestations in maple syrup urine disease. Author(s): Gazit D, Zeltser R, Galili D, Kaufman E. Source: Oral Surg Oral Med Oral Pathol. 1989 June; 67(6): 694-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2740092

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Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease. Author(s): Schadewaldt P, Dalle-Feste C, Langenbeck U, Wendel U. Source: Pediatric Research. 1991 November; 30(5): 430-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1754297

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Organ donation by a maple syrup urine disease patient. Author(s): Shih VE, Stewart B. Source: Journal of Inherited Metabolic Disease. 1995; 18(3): 367. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7474912

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Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. Author(s): Shigematsu Y, Kikuchi K, Momoi T, Sudo M, Kikawa Y, Nosaka K, Kuriyama M, Haruki S, Sanada K, Hamano N, et al. Source: Journal of Inherited Metabolic Disease. 1983; 6(4): 183-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6422161

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Outcome of early and long-term management of classical maple syrup urine disease. Author(s): Clow CL, Reade TM, Scriver CR. Source: Pediatrics. 1981 December; 68(6): 856-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6798541

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Outcome of maple syrup urine disease. Author(s): Naughten ER, Jenkins J, Francis DE, Leonard JV. Source: Archives of Disease in Childhood. 1982 December; 57(12): 918-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7181520

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Peritoneal dialysis in maple syrup urine disease. Author(s): Sallan SE, Cottom D. Source: Lancet. 1969 December 27; 2(7635): 1423-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4188300

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Plasma amino acid analyses in two cases of maple syrup urine disease. Author(s): Surarit R, Srisomsap C, Wasant P, Svasti J, Suthatvoravut U, Chokchaichamnankit D, Liammongkolkul S. Source: Southeast Asian J Trop Med Public Health. 1999; 30 Suppl 2: 138-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11400750

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Postmortem diagnosis of metabolic disorders. The finding of maple syrup urine disease in a case of sudden and unexpected death in infancy. Author(s): Hallock J, Morrow G 3rd, Karp LA, Barness LA. Source: Am J Dis Child. 1969 October; 118(4): 649-51. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5820611

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Postoperative metabolic decompensation in maple syrup urine disease is completely prevented by insulin. Author(s): Biggemann B, Zass R, Wendel U. Source: Journal of Inherited Metabolic Disease. 1993; 16(5): 912-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8295418

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Postpartum death with maple syrup urine disease. Author(s): Yoshida S, Tanaka T. Source: International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics. 2003 April; 81(1): 57-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12676398

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Practical methods to estimate whole body leucine oxidation in maple syrup urine disease. Author(s): Elsas LJ, Ellerine NP, Klein PD. Source: Pediatric Research. 1993 May; 33(5): 445-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8511017

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Pregnancy in a woman with maple syrup urine disease. Author(s): Grunewald S, Hinrichs F, Wendel U. Source: Journal of Inherited Metabolic Disease. 1998 April; 21(2): 89-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9584259

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Primary human fibroblasts from a maple syrup urine disease patient undergo apoptosis following exposure to physiological concentrations of branched chain amino acids. Author(s): Jouvet P, Kozma M, Mehmet H. Source: Annals of the New York Academy of Sciences. 2000; 926: 116-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11193026

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Proceedings: Neonatal diagnosis of maple syrup urine disease and the influence of exchange blood transfusion. Author(s): Russell A, Statter M, Shina A, Perlman M. Source: Isr J Med Sci. 1975 November; 11(11): 1218-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1205813

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Prolongation of G1 and S phase in C-6 glioma cells treated with maple syrup urine disease metabolits. Morphologic and cell cycle studies. Author(s): Liao CL, Herman MM, Bensch KG. Source: Laboratory Investigation; a Journal of Technical Methods and Pathology. 1978 February; 38(2): 122-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=564423

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Protein and leucine metabolism in maple syrup urine disease. Author(s): Thompson GN, Bresson JL, Pacy PJ, Bonnefont JP, Walter JH, Leonard JV, Saudubray JM, Halliday D. Source: The American Journal of Physiology. 1990 April; 258(4 Pt 1): E654-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2185648

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Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. Author(s): Heindel W, Kugel H, Wendel U, Roth B, Benz-Bohm G. Source: Pediatric Radiology. 1995; 25(4): 296-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7567243

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Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts. Author(s): Wendel U, Wohler W, Goedde HW, Langenbeck U, Passarge E, Rudiger HW. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1973 May 30; 45(4): 433-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4730214

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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Author(s): Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Source: Clinical Chemistry. 1995 January; 41(1): 62-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7813082

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Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises. Author(s): Wajner M, Coelho DM, Barschak AG, Araujo PR, Pires RF, Lulhier FL, Vargas CR. Source: Journal of Inherited Metabolic Disease. 2000 July; 23(5): 505-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10947205

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Reduction of plasma concentrations of large neutral amino acids in patients with maple syrup urine disease during crises. Author(s): Wajner M, Vargas CR. Source: Archives of Disease in Childhood. 1999 June; 80(6): 579. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10523253

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Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Author(s): Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW. Source: Advances in Enzyme Regulation. 1990; 30: 245-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2403034

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Removal of branched-chain amino acids by peritoneal dialysis, continuous arteriovenous hemofiltration, and continuous arteriovenous hemodialysis in rabbits: implications for maple syrup urine disease treatment. Author(s): Gouyon JB, Desgres J, Mousson C. Source: Pediatric Research. 1994 March; 35(3): 357-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8190527

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Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease. Author(s): Schadewaldt P, Hammen HW, Ott AC, Wendel U. Source: Journal of Inherited Metabolic Disease. 1999 August; 22(6): 706-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10472531

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Retinopathy associated with pancreatitis in a child with maple syrup urine disease. Author(s): Danias J, Raab EI, Friedman AH. Source: The British Journal of Ophthalmology. 1998 July; 82(7): 841-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9924384

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Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child. Author(s): Litwer S, Herring WJ, Danner DJ. Source: The Journal of Biological Chemistry. 1989 September 5; 264(25): 14597-600. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2768232

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Scoliosis and maple syrup urine disease. Author(s): Herndon WA. Source: Journal of Pediatric Orthopedics. 1984 January; 4(1): 126-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6693558

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Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. Author(s): Hsiao KJ, Chen CH, Liu TT, Wu SJ, Plettner C, Clemens P. Source: Taiwan Yi Xue Hui Za Zhi. 1989 January; 88(1): 18-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2787833

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Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease. Author(s): Zhang B, Wappner RS, Brandt IK, Harris RA, Crabb DW. Source: American Journal of Human Genetics. 1990 April; 46(4): 843-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2316528

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Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Author(s): Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U. Source: Clinical Chemistry. 1999 October; 45(10): 1734-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10508118

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So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient. Author(s): Scriver CR, Clow CL, George H. Source: The Journal of Pediatrics. 1985 November; 107(5): 763-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4056978

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Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer. Author(s): Koyata H, Cox RP, Chuang DT. Source: The Biochemical Journal. 1993 November 1; 295 ( Pt 3): 635-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8240269

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Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. Author(s): Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, Mandel H, Chuang DT. Source: The Journal of Biological Chemistry. 2004 April 23; 279(17): 17792-800. Epub 2004 January 23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14742428

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Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity. Author(s): Jinno Y, Akaboshi I, Katsuki T, Matsuda I. Source: Human Genetics. 1984; 65(4): 358-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6693123

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Successful repair and postoperative management of tetralogy of Fallot in a patient with maple syrup urine disease. Author(s): Fukutomi M, Kitamura S, Kawachi K, Tsuji T, Hashimoto K, Yoshioka A. Source: Heart and Vessels. 1993; 8(1): 48-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8454563

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Tailoring of the diet for the individual in maple syrup urine disease: long-term home dietary treatment of an adult patient with MSUD by monitoring of daily intake with a personal computer. A case report. Author(s): Lie IE, Haugstad S, Holm H. Source: Hum Nutr Appl Nutr. 1985 April; 39(2): 130-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3839494

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The configuration of the alloisoleucine present in maple syrup urine disease plasma. Author(s): Halpern B, Pollock GE. Source: Biochem Med. 1970 November; 4(3): 352-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5524075

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The enzyme defect in maple syrup urine disease (branched chain ketoaciduria). Author(s): Seegmiller JE, Westall RG. Source: J Ment Defic Res. 1967 December; 11(4): 288-94. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5582930

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The evolution of the EEG in two patients with maple syrup urine disease (branchedchained ketonuria). Author(s): Sonksen PM, Cottom DG, Harden A. Source: Developmental Medicine and Child Neurology. 1971 October; 13(5): 606-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5119917

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The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria). Author(s): Gompertz D, Draffan GH. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1972 August; 40(1): 5-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5056643

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The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease. Author(s): Kindt E, Halvorsen S. Source: The American Journal of Clinical Nutrition. 1980 February; 33(2): 279-86. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6101930

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The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease. Author(s): Snyderman SE, Goldstein F, Sansaricq C, Norton PM. Source: Pediatric Research. 1984 September; 18(9): 851-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6483508

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The role of thiamin in maple syrup urine disease. Author(s): Elsas LJ 2nd, Danner DJ. Source: Annals of the New York Academy of Sciences. 1982; 378: 404-21. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7044230

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The therapy of maple syrup urine disease. Author(s): Snyderman SE. Source: Am J Dis Child. 1967 January; 113(1): 68-73. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6015908

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The treatment of maple syrup urine disease. Author(s): Goodman SI, Pollak S, Miles B, O'Brien D. Source: The Journal of Pediatrics. 1969 September; 75(3): 485-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5804198

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Thiamine non-responsive intermittent branched-chain ketoaciduria in a Laotian child. Author(s): Pueschel SM. Source: Journal of Inherited Metabolic Disease. 1986; 9(1): 72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3088326

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Thiamine response in maple syrup urine disease. Author(s): Fernhoff PM, Lubitz D, Danner DJ, Dembure PP, Schwartz HP, Hillman R, Bier DM, Elsas LJ. Source: Pediatric Research. 1985 October; 19(10): 1011-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3903643

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Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase. Author(s): Ellerine NP, Herring WJ, Elsas LJ 2nd, McKean MC, Klein PD, Danner DJ. Source: Biochemical Medicine and Metabolic Biology. 1993 June; 49(3): 363-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8347380

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Thiamin-responsive maple syrup urine disease: seizures after 7 years of satisfactory metabolic control. Author(s): Delis D, Michelakakis H, Katsarou E, Bartsocas CS. Source: Journal of Inherited Metabolic Disease. 2001 November; 24(6): 683-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11768588

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Total parenteral nutrition therapy of toxic maple syrup urine disease. Author(s): Townsend I, Kerr DS. Source: The American Journal of Clinical Nutrition. 1982 August; 36(2): 359-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6808824

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Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. Author(s): Lombeck I, Kasperek K, Feinendegen LE, Bremer HJ. Source: Monogr Hum Genet. 1978; 9: 114-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=732826

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Transaminations between amino acids and keto acids elevated in phenylketonuria and maple syrup urine disease. Author(s): Lees GJ, Weiner N. Source: Journal of Neurochemistry. 1973 February; 20(2): 389-403. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4698286

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Treatment of the acute crisis in maple syrup urine disease. Author(s): Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. Source: Archives of Pediatrics & Adolescent Medicine. 1998 June; 152(6): 593-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9641714

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Treatment outcome of maple syrup urine disease. Author(s): Snyderman SE. Source: Acta Paediatr Jpn. 1988 August; 30(4): 417-24. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3150230

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Two different forms of maple syrup urine disease in a single family. Author(s): Langenbeck U. Source: Human Genetics. 1986 March; 72(3): 279. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2870020

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Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease. Author(s): McConnell BB, Burkholder B, Danner DJ. Source: Biochimica Et Biophysica Acta. 1997 October 24; 1361(3): 263-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9375800

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Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease. Author(s): Tharp BR. Source: Pediatric Neurology. 1992 January-February; 8(1): 65-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1558579

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Utility of hemodialysis in maple syrup urine disease. Author(s): Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ. Source: Pediatric Nephrology (Berlin, Germany). 2002 April; 17(4): 239-42. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11956873

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Valine-toxic intermittent maple syrup urine disease: a previously unrecognized variant. Author(s): Zipf WB, Hieber VC, Allen RJ. Source: Pediatrics. 1979 February; 63(2): 286-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=440821

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Variant maple syrup urine disease in mother and daughter. Author(s): Zaleski LA, Dancis J, Cox RP, Hutzler J, Zaleski WA, Hill A. Source: Can Med Assoc J. 1973 August 18; 109(4): 299-300 Passim. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4730202

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Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease. Author(s): Skladal D, Grissenauer G, Konstantopoulou V, Felber S, Sperl W. Source: Journal of Inherited Metabolic Disease. 2000 July; 23(5): 513-4. Erratum In: J Inherit Metab Dis 2000 November; 23(7): 683. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10947206

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Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. Author(s): Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Source: Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. 2003 April; 13(2): 162-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12722501

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Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease. Author(s): Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U. Source: Pediatric Research. 2001 May; 49(5): 627-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11328944

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CHAPTER 2. NUTRITION AND MAPLE SYRUP URINE DISEASE Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and maple syrup urine disease.

Finding Nutrition Studies on Maple Syrup Urine Disease The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.4 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “maple syrup urine disease” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

4 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “maple syrup urine disease” (or a synonym): •

Definition of the mutation responsible for maple syrup urine disease in poll shorthorns and genotyping poll shorthorns and poll herefords for maple syrup urine disease alleles. Source: Dennis, J.A. Healy, P.J. Res-vet-sci. London, U.K. : W.B. Saunders Company Ltd. August 1999. volume 67 (1) page 1-6. 0034-5288

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Diet treatment of branched chain ketoaciduria studied by proton magnetic resonance spectroscopy. Source: Pontoni, G. Rotondo, F. Vacchiano, T.M.G. Pinto, L. Perrotta, V. Della Pietra, D. Carteni Farina, M. Zappia, V. Amino-acids. Wien; New York : Springer-Verlag, c1991-. 1996. volume 11 (1) page 91-97. 0939-4451

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Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: implication for maple syrup urine disease and phenylketonuria. Author(s): Department of Pediatrics, University of Maryland, Pediatric Research, 10-035 BRB, 655 W Baltimore Street, Baltimore, MD 21201, USA. [email protected] Source: Zielke, H Ronald Zielke, Carol L Baab, Peter J Collins, Roger M Neurochem-Int. 2002 April; 40(4): 347-54 0197-0186

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

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Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMDHealth: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND MAPLE SYRUP URINE DISEASE Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to maple syrup urine disease. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to maple syrup urine disease and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “maple syrup urine disease” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to maple syrup urine disease: •

“Maple-syrup” urine odor due to fenugreek ingestion. Author(s): Bartley GB, Hilty MD, Andreson BD, Clairmont AC, Maschke SP. Source: The New England Journal of Medicine. 1981 August 20; 305(8): 467. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7254294

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4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. Author(s): Podebrad F, Heil M, Reichert S, Mosandl A, Sewell AC, Bohles H. Source: Journal of Inherited Metabolic Disease. 1999 April; 22(2): 107-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10234605

•

Dermatitis in treated maple syrup urine disease. Author(s): Koch SE, Packman S, Koch TK, Williams ML.

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Source: Journal of the American Academy of Dermatology. 1993 February; 28(2 Pt 2): 289-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8436640 •

Effect of selenium supplementation on the distribution of selenium among plasma proteins of a patient with maple syrup urine disease. Author(s): Borglund M, Sjoblad S, Akesson B. Source: European Journal of Pediatrics. 1989 August; 148(8): 767-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2792131

•

False diagnosis of maple syrup urine disease owing to ingestion of herbal tea. Author(s): Sewell AC, Mosandl A, Bohles H. Source: The New England Journal of Medicine. 1999 September 2; 341(10): 769. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10475807

•

Fenugreek odour in maple syrup urine disease. Author(s): Monastiri K, Limame K, Kaabachi N, Kharrat H, Bousnina S, Pousse H, Radhouane M, Gueddiche MN, Snoussi N. Source: Journal of Inherited Metabolic Disease. 1997 August; 20(4): 614-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9266407

•

Folic acid deficiency secondary to a diet for maple syrup urine disease. Author(s): Levy HL, Truman JT, Ganz RN, Littlefield JW. Source: The Journal of Pediatrics. 1970 August; 77(2): 294-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4194001

•

Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study. Author(s): Yoshino M, Aoki K, Akeda H, Hashimoto K, Ikeda T, Inoue F, Ito M, Kawamura M, Kohno Y, Koga Y, Kuroda Y, Maesaka H, Murakamisoda H, Sugiyama N, Suzuki Y, Yano S, Yoshioka A. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 1999 April; 41(2): 132-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10221014

•

Maple syrup urine disease: case report of 2 Thai infants. Author(s): Chiemchanya S, Suthutvoravut U, Visudhiphan P. Source: J Med Assoc Thai. 1989 January; 72 Suppl 1: 116-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2732631

•

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Author(s): Wiley V, Carpenter K, Wilcken B.

Alternative Medicine 55

Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(432): 48-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10626578 •

Peculiar odor of traditional food and maple syrup urine disease. Author(s): Yalcin SS, Tekinalp G, Ozalp I. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 1999 February; 41(1): 108-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10200148

•

Plasma glutathione peroxidase after selenium supplementation in patients with reduced selenium state. Author(s): Steiner G, Menzel H, Lombeck I, Ohnesorge FK, Bremer HJ. Source: European Journal of Pediatrics. 1982 March; 138(2): 138-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7094933

•

Pseudo-maple syrup urine disease due to maternal prenatal ingestion of fenugreek. Author(s): Korman SH, Cohen E, Preminger A. Source: Journal of Paediatrics and Child Health. 2001 August; 37(4): 403-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11532065

•

Selenium supplementation: plasma glutathione peroxidase an indicator of selenium intake. Author(s): Lombeck I, Menzel H, Steiner G, Kasperek K. Source: Klinische Padiatrie. 1982 September-October; 194(5): 303-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7144044

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•

AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

•

Chinese Medicine: http://www.newcenturynutrition.com/

•

drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

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Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

•

Google: http://directory.google.com/Top/Health/Alternative/

•

Healthnotes: http://www.healthnotes.com/

•

MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

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•

Open Directory Project: http://dmoz.org/Health/Alternative/

•

HealthGate: http://www.tnp.com/

•

WebMDHealth: http://my.webmd.com/drugs_and_herbs

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

The following is a specific Web list relating to maple syrup urine disease; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation: •

General Overview Phenylketonuria Source: Healthnotes, Inc.; www.healthnotes.com

•

Herbs and Supplements Trigonella Alternative names: Fenugreek; Trigonella foenum graecum L. Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. BOOKS ON MAPLE SYRUP URINE DISEASE Overview This chapter provides bibliographic book references relating to maple syrup urine disease. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on maple syrup urine disease include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Chapters on Maple Syrup Urine Disease In order to find chapters that specifically relate to maple syrup urine disease, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and maple syrup urine disease using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “maple syrup urine disease” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on maple syrup urine disease: •

Maple Syrup Urine Disease Source: in Complete Directory for Pediatric Disorders. Millerton, NY: Grey House Publishing, Inc. 2002. p. 498-499. Contact: Available from Grey House Publishing, Inc. 185 Millerton Road, Millerton, NY 12546. Website: www.greyhouse.com. PRICE: $165.00 plus shipping and handling. ISBN: 1930956614. Summary: This entry, from a directory of pediatric disorders, describes maple syrup urine disease (MSUD), a metabolic disorder characterized by the deficiency of certain enzymes. There are four basic types of MSUD: classic, intermittent, mild or intermediate MSUD, and thiamine-responsive MSUD. Classic MSUD, the most severe form of this disorder, becomes apparent within the first week of life and is recognizable by a characteristic maple syrup odor of the urine and on the body. Symptoms and physical findings associated with this life-threatening form of MSUD include listlessness,

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drowsiness, exaggerated muscular tension (hypertonicity) and rigidity with periods of loss of muscle tone (flaccidity), severe muscle spasms, convulsions, and coma. Treatment for classic MSUD includes the removal of leucine, isoleucine, valine, and certain other related elements from the blood by a procedure known as peritoneal dialysis. Subsequent therapy includes a diet low in leucine, isoleucine, and valine (amino acids, the building blocks of protein). MSUD is inherited as an autosomal recessive trait. Approximately one in 200,000 people in the United States is affected by this disorder. The entry concludes with a reference to organizations that may be helpful (listed in the General Resources Section of the book), the addresses of related websites, national associations and support groups, and the citations for related children's books.

Directories In addition to the references and resources discussed earlier in this chapter, a number of directories relating to maple syrup urine disease have been published that consolidate information across various sources. The Combined Health Information Database lists the following, which you may wish to consult in your local medical library:5 •

1998-1999 Complete Directory for People with Rare Disorders Source: Lakeville, CT: Grey House Publishing, Inc. 1998. 726 p. Contact: Available from Grey House Publishing, Inc. Pocket Knife Square, Lakeville, CT 06039. (860) 435-0868. Fax (860) 435-0867. PRICE: $190.00. ISBN: 0939300982. Summary: This directory, from the National Organization for Rare Disorders (NORD) provides a wealth of information on diseases and organizations. The directory offers four sections: disease descriptions, disease specific organizations, umbrella organizations, and government agencies. In the first section, the directory includes descriptions of 1,102 rare diseases in alphabetical order. Each entry defines the disorder, then refers readers to the organizations that might be of interest. Diseases related to digestive diseases include achalasia, Addison's disease, Alagille syndrome, Barrett's esophagus, Budd Chiari syndrome, Caroli disease, celiac sprue, cholangitis, cholecystitis, cirrhosis, colitis, Crohn's disease, Cushing syndrome, cystic fibrosis, diverticulitis, Dubin Johnson syndrome, fructose intolerance, galactosemia, gastritis, gastroesophageal reflux, hepatitis, Hirschprung's disease, Hurler syndrome, imperforate anus, irritable bowel syndrome, jejunal atresia, Korsakoff's syndrome, lipodystrophy, maple syrup urine disease, Morquio syndrome, polyposis, porphyria, proctitis, prune belly syndrome, sarcoidosis, Stevens Johnson syndrome, Tropical sprue, tyrosinemia, valinemia, vitamin E deficiency, Whipple's disease, Wilson's disease, and Zollinger Ellison syndrome. Each of the 445 organizations listed in the second section is associated with a specific disease or group of diseases. In addition to contact information, there is a descriptive paragraph about the organization and its primary goals and program activities. Entries include materials published by the organization as well as the diseases the organizations cover, which refer readers to Section I. The third section lists 444 organizations that are more general in nature, serving a wide range of diseases (for

5

You will need to limit your search to “Directory” and “maple syrup urine disease” using the "Detailed Search" option. Go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find directories, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Select your preferred language and the format option “Directory.” Type “maple syrup urine disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database as it is updated every three months.

Books

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example, the American Liver Foundation). The final section describes 74 agencies that are important federal government contacts that serve the diverse needs of individuals with rare disorders. A name and key word index concludes the volume.

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APPENDICES

63

APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute6: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

6

These publications are typically written by one or more of the various NIH Institutes.

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•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

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National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

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National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

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National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

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National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

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National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

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National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

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National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

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National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

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National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

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National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

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National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.7 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:8 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

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Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

7

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 8 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway9 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.10 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “maple syrup urine disease” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 888 9 854 3 14 1768

HSTAT11 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.12 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.13 Simply search by “maple syrup urine disease” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

9

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

10

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 11 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 12 13

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists14 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.15 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.16 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

14 Adapted 15

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 16 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on maple syrup urine disease can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to maple syrup urine disease. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to maple syrup urine disease. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “maple syrup urine disease”:

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Adrenal Gland Disorders http://www.nlm.nih.gov/medlineplus/adrenalglanddisorders.html Birth Defects http://www.nlm.nih.gov/medlineplus/birthdefects.html Degenerative Nerve Diseases http://www.nlm.nih.gov/medlineplus/degenerativenervediseases.html Facial Injuries and Disorders http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html Gaucher's Disease http://www.nlm.nih.gov/medlineplus/gauchersdisease.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Head and Brain Malformations http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html Leukodystrophies http://www.nlm.nih.gov/medlineplus/leukodystrophies.html Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

Within the health topic page dedicated to maple syrup urine disease, the following was listed: •

Treatment FDA Approves First Treatment for Fabry Disease Source: Food and Drug Administration http://www.fda.gov/bbs/topics/NEWS/2003/NEW00897.html

•

From the National Institutes of Health Genes and Disease: Refsum Disease Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View.ShowSection&rid=gnd. section.215 Genes and Disease: Zellweger Syndrome Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View.ShowSection&rid=gnd. section.122 Niemann-Pick Disease Source: National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm

•

Latest News Infant Face Features Suggest Birth Defects Source: 08/17/2004, United Press International http://www.nlm.nih.gov//www.nlm.nih.gov/medlineplus/news/fullstory_19552

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.html •

Organizations MSUD (Maple Syrup Urine Disease) Family Support Group Source: MSUD Family Support Group http://www.msud-support.org/ National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ National Newborn Screening and Genetics Resource Center http://genes-r-us.uthscsa.edu/ National Niemann-Pick Disease Foundation http://www.nnpdf.org/ Save Babies Through Screening Foundation Source: Save Babies Through Screening http://www.savebabies.org/

•

Prevention/Screening Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening Source: Save Babies Through Screening http://www.savebabies.org/NBS/msms-chace.php Newborn Screening Tests Source: March of Dimes Birth Defects Foundation http://www.marchofdimes.com/pnhec/298_834.asp

You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on maple syrup urine disease. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: •

Newborn screening fact sheets. (Rev. ed.) Source: [Evanston, IL]: American Academy of Pediatrics. 1996. 29 pp. Contact: Available from Librarian, National Center for Education in Maternal and Child Health, 2000 15th Street, North, Suite 701, Arlington, VA 22201-2617. Telephone: (703)

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524-7802 / fax: (703) 524- 9335 / e-mail: [email protected] / Web site: http://www.ncemch.org. Available for loan. Summary: These fact sheets were developed to assist pediatricians in understanding the individual genetic screening tests, their characteristics, and their strengths and weaknesses. The fact sheets do not advocate specific newborn screening tests but assist pediatricians in evaluating policies and procedures and in developing appropriate positions based on the needs of their patients and their geographic regions. Testing facts are provided regarding biotinidase deficiency, branched-chain keoaciduria (maple syrup urine disease), congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, phenylketonuria, sickle cell diseases, toxoplasmosis, and tyrosinemia. The NIH Search Utility The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to maple syrup urine disease. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

Associations and Maple Syrup Urine Disease The following is a list of associations that provide information on and resources relating to maple syrup urine disease: •

Maple Syrup Urine Disease Family Support Group Telephone: (574) 862-2992

Patient Resources

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Fax: (574) 862-2012 Email: [email protected] Web Site: http://www.msud-support.org/ Background: The Maple Syrup Urine Disease Family Support Group (MSUD) is a nonprofit organization dedicated to providing opportunities for support to affected individuals and their families, encouraging research, and disseminating educational materials. Maple Syrup Urine Disease is a rare inherited matabolic disorder that, if left untreated, can result in mental retardation, physical disabilities, and life-threatening complications. In infants with MSUD, three branched chain amino acids (leucine, iosleucine, and valine) abnormally accumulate in the blood causing harmful effects that interfere with brain functions. Established in 1982, MSUD publishes a periodic newsletter entitled 'Maple Syrup Urine Disease Newsletter.' The support group produces and distributes educational materials such as brochures on Maple Syrup Urine Disease and organizes an international education conference for families and professionals held every two years. Relevant area(s) of interest: Branched Chain Ketonuria I, Ketoacid Decarboxylase Deficiency, Maple Syrup Urine Disease

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to maple syrup urine disease. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with maple syrup urine disease. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about maple syrup urine disease. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “maple syrup urine disease” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given

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the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “maple syrup urine disease”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “maple syrup urine disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “maple syrup urine disease” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.17

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

17

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)18: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

18

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries

77

•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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•

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

81

ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on maple syrup urine disease: •

Basic Guidelines for Maple Syrup Urine Disease Maple syrup urine disease Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm MSUD Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

•

Signs & Symptoms for Maple Syrup Urine Disease Coma Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003202.htm Lethargy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003088.htm Seizures Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm

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Vomiting Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003117.htm •

Diagnostics and Tests for Maple Syrup Urine Disease Peritoneal dialysis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003421.htm Plasma amino acids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003361.htm Urine amino acids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003366.htm

•

Background Topics for Maple Syrup Urine Disease Acute Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002215.htm Amino acids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002222.htm Central nervous system Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002311.htm Genetic counseling Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm Metabolism Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002257.htm Metabolize Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002259.htm Precipitate Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002275.htm Stressful situations Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001942.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

Online Glossaries 83

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

•

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

85

MAPLE SYRUP URINE DISEASE DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] Abdominal: Having to do with the abdomen, which is the part of the body between the chest and the hips that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs. [NIH] Abdominal Pain: Sensation of discomfort, distress, or agony in the abdominal region. [NIH] Acceptor: A substance which, while normally not oxidized by oxygen or reduced by hydrogen, can be oxidized or reduced in presence of a substance which is itself undergoing oxidation or reduction. [NIH] Acetone: A colorless liquid used as a solvent and an antiseptic. It is one of the ketone bodies produced during ketoacidosis. [NIH] Acetylcholine: A neurotransmitter. Acetylcholine in vertebrates is the major transmitter at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. It is generally not used as an administered drug because it is broken down very rapidly by cholinesterases, but it is useful in some ophthalmological applications. [NIH] Acidemia: Increased acidity of blood. [NIH] Acidity: The quality of being acid or sour; containing acid (hydrogen ions). [EU] Acidosis: A pathologic condition resulting from accumulation of acid or depletion of the alkaline reserve (bicarbonate content) in the blood and body tissues, and characterized by an increase in hydrogen ion concentration. [EU] Acoustic: Having to do with sound or hearing. [NIH] Acyl: Chemical signal used by bacteria to communicate. [NIH] Adrenal Hyperplasia, Congenital: A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. [NIH] Aerobic: In biochemistry, reactions that need oxygen to happen or happen when oxygen is present. [NIH] Affinity: 1. Inherent likeness or relationship. 2. A special attraction for a specific element, organ, or structure. 3. Chemical affinity; the force that binds atoms in molecules; the tendency of substances to combine by chemical reaction. 4. The strength of noncovalent chemical binding between two substances as measured by the dissociation constant of the complex. 5. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K litres mole -1), which, owing to the heterogeneity of affinities in a population of

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antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant). 6. The reciprocal of the dissociation constant. [EU] Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases immunity, and provides energy for muscle tissue, brain, and the central nervous system. [NIH] Albumin: 1. Any protein that is soluble in water and moderately concentrated salt solutions and is coagulable by heat. 2. Serum albumin; the major plasma protein (approximately 60 per cent of the total), which is responsible for much of the plasma colloidal osmotic pressure and serves as a transport protein carrying large organic anions, such as fatty acids, bilirubin, and many drugs, and also carrying certain hormones, such as cortisol and thyroxine, when their specific binding globulins are saturated. Albumin is synthesized in the liver. Low serum levels occur in protein malnutrition, active inflammation and serious hepatic and renal disease. [EU] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alimentary: Pertaining to food or nutritive material, or to the organs of digestion. [EU] Alkaline: Having the reactions of an alkali. [EU] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Allo: A female hormone. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino acid: Any organic compound containing an amino (-NH2 and a carboxyl (- COOH) group. The 20 a-amino acids listed in the accompanying table are the amino acids from which proteins are synthesized by formation of peptide bonds during ribosomal translation of messenger RNA; all except glycine, which is not optically active, have the L configuration. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by posttranslational enzymatic modification of amino acids residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y-aminobutyric acid, that have no relation to proteins. Abbreviated AA. [EU] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Anal: Having to do with the anus, which is the posterior opening of the large bowel. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of

Dictionary 87

which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antiseptic: A substance that inhibits the growth and development of microorganisms without necessarily killing them. [EU] Anus: The opening of the rectum to the outside of the body. [NIH] Apoptosis: One of the two mechanisms by which cell death occurs (the other being the pathological process of necrosis). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA (DNA fragmentation) at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Arteriovenous: Both arterial and venous; pertaining to or affecting an artery and a vein. [EU] Artery: Vessel-carrying blood from the heart to various parts of the body. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Astringent: Causing contraction, usually locally after topical application. [EU] Astrocytes: The largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury. Astrocytes have high- affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitter, but their role in signaling (as in many other functions) is not well understood. [NIH] Asymptomatic: Having no signs or symptoms of disease. [NIH] Atresia: Lack of a normal opening from the esophagus, intestines, or anus. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Auditory: Pertaining to the sense of hearing. [EU] Auditory nerve: The eight cranial nerve; also called vestibulocochlear nerve or acoustic nerve. [NIH] Autodigestion: Autolysis; a condition found in disease of the stomach: the stomach wall is digested by the gastric juice. [NIH] Axonal: Condition associated with metabolic derangement of the entire neuron and is manifest by degeneration of the distal portion of the nerve fiber. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls,

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multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basophils: Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes. [NIH] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH] Bile Acids: Acids made by the liver that work with bile to break down fats. [NIH] Bile duct: A tube through which bile passes in and out of the liver. [NIH] Biliary: Having to do with the liver, bile ducts, and/or gallbladder. [NIH] Biliary Tract: The gallbladder and its ducts. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biological Transport: The movement of materials (including biochemical substances and drugs) across cell membranes and epithelial layers, usually by passive diffusion. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Bloating: Fullness or swelling in the abdomen that often occurs after meals. [NIH] Blood transfusion: The administration of blood or blood products into a blood vessel. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Blood Volume: Volume of circulating blood. It is the sum of the plasma volume and erythrocyte volume. [NIH] Body Fluids: Liquid components of living organisms. [NIH] Bone scan: A technique to create images of bones on a computer screen or on film. A small amount of radioactive material is injected into a blood vessel and travels through the bloodstream; it collects in the bones and is detected by a scanner. [NIH] Bradykinin: A nonapeptide messenger that is enzymatically produced from kallidin in the blood where it is a potent but short-lived agent of arteriolar dilation and increased capillary permeability. Bradykinin is also released from mast cells during asthma attacks, from gut walls as a gastrointestinal vasodilator, from damaged tissues as a pain signal, and may be a neurotransmitter. [NIH] Brain Diseases: Pathologic conditions affecting the brain, which is composed of the intracranial components of the central nervous system. This includes (but is not limited to) the cerebral cortex; intracranial white matter; basal ganglia; thalamus; hypothalamus; brain

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stem; and cerebellum. [NIH] Brain Stem: The part of the brain that connects the cerebral hemispheres with the spinal cord. It consists of the mesencephalon, pons, and medulla oblongata. [NIH] Bulbar: Pertaining to a bulb; pertaining to or involving the medulla oblongata, as bulbar paralysis. [EU] Capillary: Any one of the minute vessels that connect the arterioles and venules, forming a network in nearly all parts of the body. Their walls act as semipermeable membranes for the interchange of various substances, including fluids, between the blood and tissue fluid; called also vas capillare. [EU] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carbon Dioxide: A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals. [NIH] Carcinogenic: Producing carcinoma. [EU] Cardiac: Having to do with the heart. [NIH] Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Catabolism: Any destructive metabolic process by which organisms convert substances into excreted compounds. [EU] Catechol: A chemical originally isolated from a type of mimosa tree. Catechol is used as an astringent, an antiseptic, and in photography, electroplating, and making other chemicals. It can also be man-made. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Cycle: The complex series of phenomena, occurring between the end of one cell division and the end of the next, by which cellular material is divided between daughter cells. [NIH] Cell Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability. [NIH] Cell Division: The fission of a cell. [NIH] Cell membrane: Cell membrane = plasma membrane. The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees. [EU] Cell Respiration: The metabolic process of all living cells (animal and plant) in which oxygen is used to provide a source of energy for the cell. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Cerebellar: Pertaining to the cerebellum. [EU]

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Cerebellum: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Chin: The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [NIH] Chloroform: A commonly used laboratory solvent. It was previously used as an anesthetic, but was banned from use in the U.S. due to its suspected carcinogenecity. [NIH] Cholangitis: Inflammation of a bile duct. [NIH] Cholecystitis: Inflammation of the gallbladder. [NIH] Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Chorion: The outermost extraembryonic membrane. [NIH] Chorionic Villi: The threadlike, vascular projections of the chorion which enter into the formation of the placenta. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Circulatory system: The system that contains the heart and the blood vessels and moves blood throughout the body. This system helps tissues get enough oxygen and nutrients, and it helps them get rid of waste products. The lymph system, which connects with the blood system, is often considered part of the circulatory system. [NIH] Cirrhosis: A type of chronic, progressive liver disease. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Coenzyme: An organic nonprotein molecule, frequently a phosphorylated derivative of a water-soluble vitamin, that binds with the protein molecule (apoenzyme) to form the active

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enzyme (holoenzyme). [EU] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Colitis: Inflammation of the colon. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementation: The production of a wild-type phenotype when two different mutations are combined in a diploid or a heterokaryon and tested in trans-configuration. [NIH] Computational Biology: A field of biology concerned with the development of techniques

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for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Computed tomography: CT scan. A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized tomography and computerized axial tomography (CAT) scan. [NIH] Computerized axial tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography (CT scan), or computerized tomography. [NIH] Computerized tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized axial tomography (CAT) scan and computed tomography (CT scan). [NIH] Conjugated: Acting or operating as if joined; simultaneous. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Consciousness: Sense of awareness of self and of the environment. [NIH] Constipation: Infrequent or difficult evacuation of feces. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Convulsions: A general term referring to sudden and often violent motor activity of cerebral or brainstem origin. Convulsions may also occur in the absence of an electrical cerebral discharge (e.g., in response to hypotension). [NIH] Coordination: Muscular or motor regulation or the harmonious cooperation of muscles or groups of muscles, in a complex action or series of actions. [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Cultured cells: Animal or human cells that are grown in the laboratory. [NIH] Cytochrome: Any electron transfer hemoprotein having a mode of action in which the transfer of a single electron is effected by a reversible valence change of the central iron atom of the heme prosthetic group between the +2 and +3 oxidation states; classified as

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cytochromes a in which the heme contains a formyl side chain, cytochromes b, which contain protoheme or a closely similar heme that is not covalently bound to the protein, cytochromes c in which protoheme or other heme is covalently bound to the protein, and cytochromes d in which the iron-tetrapyrrole has fewer conjugated double bonds than the hemes have. Well-known cytochromes have been numbered consecutively within groups and are designated by subscripts (beginning with no subscript), e.g. cytochromes c, c1, C2, . New cytochromes are named according to the wavelength in nanometres of the absorption maximum of the a-band of the iron (II) form in pyridine, e.g., c-555. [EU] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Decarboxylation: The removal of a carboxyl group, usually in the form of carbon dioxide, from a chemical compound. [NIH] Decompensation: Failure of compensation; cardiac decompensation is marked by dyspnea, venous engorgement, and edema. [EU] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Dendrites: Extensions of the nerve cell body. They are short and branched and receive stimuli from other neurons. [NIH] Dendritic: 1. Branched like a tree. 2. Pertaining to or possessing dendrites. [EU] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] Dermatitis: Any inflammation of the skin. [NIH] Diabetic Ketoacidosis: Complication of diabetes resulting from severe insulin deficiency coupled with an absolute or relative increase in glucagon concentration. The metabolic acidosis is caused by the breakdown of adipose stores and resulting increased levels of free fatty acids. Glucagon accelerates the oxidation of the free fatty acids producing excess ketone bodies (ketosis). [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Dialyzer: A part of the hemodialysis machine. (See hemodialysis under dialysis.) The dialyzer has two sections separated by a membrane. One section holds dialysate. The other holds the patient's blood. [NIH] Diarrhea: Passage of excessively liquid or excessively frequent stools. [NIH] Diffusion: The tendency of a gas or solute to pass from a point of higher pressure or concentration to a point of lower pressure or concentration and to distribute itself throughout the available space; a major mechanism of biological transport. [NIH] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Dimethyl: A volatile metabolite of the amino acid methionine. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dislocation: The displacement of any part, more especially of a bone. Called also luxation. [EU]

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Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Diverticula: Plural form of diverticulum. [NIH] Diverticulitis: Inflammation of a diverticulum or diverticula. [NIH] Diverticulum: A pathological condition manifested as a pouch or sac opening from a tubular or sacular organ. [NIH] Dopamine: An endogenous catecholamine and prominent neurotransmitter in several systems of the brain. In the synthesis of catecholamines from tyrosine, it is the immediate precursor to norepinephrine and epinephrine. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of dopaminergic receptor subtypes mediate its action. Dopamine is used pharmacologically for its direct (beta adrenergic agonist) and indirect (adrenergic releasing) sympathomimetic effects including its actions as an inotropic agent and as a renal vasodilator. [NIH] Drip: The continuous slow introduction of a fluid containing nutrients or drugs. [NIH] Dyspnea: Difficult or labored breathing. [NIH] Edema: Excessive amount of watery fluid accumulated in the intercellular spaces, most commonly present in subcutaneous tissue. [NIH] Electrolyte: A substance that dissociates into ions when fused or in solution, and thus becomes capable of conducting electricity; an ionic solute. [EU] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the latter being a high-energy biproduct of nuclear decay. [NIH] Electroplating: Coating with a metal or alloy by electrolysis. [NIH] Elementary Particles: Individual components of atoms, usually subatomic; subnuclear particles are usually detected only when the atomic nucleus decays and then only transiently, as most of them are unstable, often yielding pure energy without substance, i.e., radiation. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Emergency Treatment: First aid or other immediate intervention for accidents or medical conditions requiring immediate care and treatment before definitive medical and surgical management can be procured. [NIH] Encephalopathy: A disorder of the brain that can be caused by disease, injury, drugs, or chemicals. [NIH] Endorphins: One of the three major groups of endogenous opioid peptides. They are large peptides derived from the pro-opiomelanocortin precursor. The known members of this group are alpha-, beta-, and gamma-endorphin. The term endorphin is also sometimes used to refer to all opioid peptides, but the narrower sense is used here; opioid peptides is used for the broader group. [NIH] Endotoxins: Toxins closely associated with the living cytoplasm or cell wall of certain microorganisms, which do not readily diffuse into the culture medium, but are released upon lysis of the cells. [NIH] Enkephalins: One of the three major families of endogenous opioid peptides. The enkephalins are pentapeptides that are widespread in the central and peripheral nervous

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systems and in the adrenal medulla. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Enzyme Inhibitors: Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. [NIH] Eosinophils: Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin. [NIH] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Excitation: An act of irritation or stimulation or of responding to a stimulus; the addition of energy, as the excitation of a molecule by absorption of photons. [EU] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extracellular Space: Interstitial space between cells, occupied by fluid as well as amorphous and fibrous substances. [NIH] Extracorporeal: Situated or occurring outside the body. [EU] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from death, the physiological cessation of life and from mortality, an epidemiological or statistical concept. [NIH] Febrile: Pertaining to or characterized by fever. [EU] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibrinogen: Plasma glycoprotein clotted by thrombin, composed of a dimer of three nonidentical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen

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and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Flatus: Gas passed through the rectum. [NIH] Fluid Therapy: Therapy whose basic objective is to restore the volume and composition of the body fluids to normal with respect to water-electrolyte balance. Fluids may be administered intravenously, orally, by intermittent gavage, or by hypodermoclysis. [NIH] Fossa: A cavity, depression, or pit. [NIH] Fructose Intolerance: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. [NIH] Galactitol: A naturally occurring product of plants obtained following reduction of galactose. It appears as a white crystalline powder with a slight sweet taste. It may form in excess in the lens of the eye in galactosemia, a deficiency of galactokinase. [NIH] Galactokinase: An enzyme that catalyzes reversibly the formation of galactose 1-phosphate and ADP from ATP and D-galactose. Galactosamine can also act as the acceptor. A deficiency of this enzyme results in galactosemia. EC 2.7.1.6. [NIH] Galactosemia: Buildup of galactose in the blood. Caused by lack of one of the enzymes needed to break down galactose into glucose. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH] Gastric: Having to do with the stomach. [NIH] Gastritis: Inflammation of the stomach. [EU] Gastroesophageal Reflux: Reflux of gastric juice and/or duodenal contents (bile acids, pancreatic juice) into the distal esophagus, commonly due to incompetence of the lower esophageal sphincter. Gastric regurgitation is an extension of this process with entry of fluid into the pharynx or mouth. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. [NIH] Genetic Screening: Searching a population or individuals for persons possessing certain genotypes or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not

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known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Giant Cells: Multinucleated masses produced by the fusion of many cells; often associated with viral infections. In AIDS, they are induced when the envelope glycoprotein of the HIV virus binds to the CD4 antigen of uninfected neighboring T4 cells. The resulting syncytium leads to cell death and thus may account for the cytopathic effect of the virus. [NIH] Glioma: A cancer of the brain that comes from glial, or supportive, cells. [NIH] Gluconeogenesis: The process by which glucose is formed from a non-carbohydrate source. [NIH]

Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glutamate: Excitatory neurotransmitter of the brain. [NIH] Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid (glutamate) is the most common excitatory neurotransmitter in the central nervous system. [NIH]

Glutamine: A non-essential amino acid present abundantly throught the body and is involved in many metabolic processes. It is synthesized from glutamic acid and ammonia. It is the principal carrier of nitrogen in the body and is an important energy source for many cells. [NIH] Glutathione Peroxidase: An enzyme catalyzing the oxidation of 2 moles of glutathione in the presence of hydrogen peroxide to yield oxidized glutathione and water. EC 1.11.1.9. [NIH]

Glycerophosphates: Any salt or ester of glycerophosphoric acid. [NIH] Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [NIH] Glycolysis: The pathway by which glucose is catabolized into two molecules of pyruvic acid with the generation of ATP. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Granule: A small pill made from sucrose. [EU] Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins. [NIH] Hemodialysis: The use of a machine to clean wastes from the blood after the kidneys have failed. The blood travels through tubes to a dialyzer, which removes wastes and extra fluid. The cleaned blood then flows through another set of tubes back into the body. [NIH] Hemofiltration: Extracorporeal ultrafiltration technique without hemodialysis for treatment of fluid overload and electrolyte disturbances affecting renal, cardiac, or pulmonary function. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma

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glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hepatic: Refers to the liver. [NIH] Hepatitis: Inflammation of the liver and liver disease involving degenerative or necrotic alterations of hepatocytes. [NIH] Hepatocytes: The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Heterozygote: An individual having different alleles at one or more loci in homologous chromosome segments. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrogen Peroxide: A strong oxidizing agent used in aqueous solution as a ripening agent, bleach, and topical anti-infective. It is relatively unstable and solutions deteriorate over time unless stabilized by the addition of acetanilide or similar organic materials. [NIH] Hydrophobic: Not readily absorbing water, or being adversely affected by water, as a hydrophobic colloid. [EU] Hydroxy Acids: Organic compounds containing both the hydroxyl and carboxyl radicals. [NIH]

Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hyperreflexia: Exaggeration of reflexes. [EU] Hypogammaglobulinemia: The most common primary immunodeficiency in which antibody production is deficient. [NIH] Hypoglycemia: Abnormally low blood sugar [NIH] Hypotension: Abnormally low blood pressure. [NIH] Hypothalamus: Ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle. [NIH] Hypothermia: Lower than normal body temperature, especially in warm-blooded animals; in man usually accidental or unintentional. [NIH]

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Hypothyroidism: Deficiency of thyroid activity. In adults, it is most common in women and is characterized by decrease in basal metabolic rate, tiredness and lethargy, sensitivity to cold, and menstrual disturbances. If untreated, it progresses to full-blown myxoedema. In infants, severe hypothyroidism leads to cretinism. In juveniles, the manifestations are intermediate, with less severe mental and developmental retardation and only mild symptoms of the adult form. When due to pituitary deficiency of thyrotropin secretion it is called secondary hypothyroidism. [EU] Idiopathic: Describes a disease of unknown cause. [NIH] Immortal: Stage when the mother cell and its descendants will multiply indefinitely. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immune system: The organs, cells, and molecules responsible for the recognition and disposal of foreign ("non-self") material which enters the body. [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunoglobulins: Glycoproteins present in the blood (antibodies) and in other tissue. They are classified by structure and activity into five classes (IgA, IgD, IgE, IgG, IgM). [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Imperforate Anus: A birth defect in which the anal canal fails to develop. The condition is treated with an operation. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incompetence: Physical or mental inadequacy or insufficiency. [EU] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Infusion: A method of putting fluids, including drugs, into the bloodstream. Also called intravenous infusion. [NIH] Ingestion: Taking into the body by mouth [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role

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in the regulation of glucose metabolism, generally promoting the cellular utilization of glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Intermittent: Occurring at separated intervals; having periods of cessation of activity. [EU] Interstitial: Pertaining to or situated between parts or in the interspaces of a tissue. [EU] Intestinal: Having to do with the intestines. [NIH] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracellular: Inside a cell. [NIH] Intracranial Pressure: Pressure within the cranial cavity. It is influenced by brain mass, the circulatory system, CSF dynamics, and skull rigidity. [NIH] Intramuscular: IM. Within or into muscle. [NIH] Intravenous: IV. Into a vein. [NIH] Invasive: 1. Having the quality of invasiveness. 2. Involving puncture or incision of the skin or insertion of an instrument or foreign material into the body; said of diagnostic techniques. [EU]

Ion Channels: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for channel gating can be a membrane potential, drug, transmitter, cytoplasmic messenger, or a mechanical deformation. Ion channels which are integral parts of ionotropic neurotransmitter receptors are not included. [NIH] Irritable Bowel Syndrome: A disorder that comes and goes. Nerves that control the muscles in the GI tract are too active. The GI tract becomes sensitive to food, stool, gas, and stress. Causes abdominal pain, bloating, and constipation or diarrhea. Also called spastic colon or mucous colitis. [NIH] Isoleucine: An essential branched-chain amino acid found in many proteins. It is an isomer of LEUCINE. It is important in hemoglobin synthesis and regulation of blood sugar and energy levels. [NIH] Karyotypes: The characteristic chromosome complement of an individual, race, or species as defined by their number, size, shape, etc. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Keto: It consists of 8 carbon atoms and within the endotoxins, it connects poysaccharide and lipid A. [NIH] Ketoacidosis: Acidosis accompanied by the accumulation of ketone bodies (ketosis) in the body tissues and fluids, as in diabetic acidosis. [EU] Ketone Bodies: Chemicals that the body makes when there is not enough insulin in the blood and it must break down fat for its energy. Ketone bodies can poison and even kill body cells. When the body does not have the help of insulin, the ketones build up in the blood and then "spill" over into the urine so that the body can get rid of them. The body can also rid itself of one type of ketone, called acetone, through the lungs. This gives the breath a fruity odor. Ketones that build up in the body for a long time lead to serious illness and coma. [NIH] Ketonuria: Having ketone bodies in the urine; a warning sign of diabetic ketoacidosis

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(DKA). [NIH] Ketosis: A condition of having ketone bodies build up in body tissues and fluids. The signs of ketosis are nausea, vomiting, and stomach pain. Ketosis can lead to ketoacidosis. [NIH] Kinetic: Pertaining to or producing motion. [EU] Laceration: 1. The act of tearing. 2. A torn, ragged, mangled wound. [EU] Lens: The transparent, double convex (outward curve on both sides) structure suspended between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leucine: An essential branched-chain amino acid important for hemoglobin formation. [NIH] Leucocyte: All the white cells of the blood and their precursors (myeloid cell series, lymphoid cell series) but commonly used to indicate granulocytes exclusive of lymphocytes. [NIH]

Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Lipid: Fat. [NIH] Lipodystrophy: A collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat. They include total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Liver scan: An image of the liver created on a computer screen or on film. A radioactive substance is injected into a blood vessel and travels through the bloodstream. It collects in the liver, especially in abnormal areas, and can be detected by the scanner. [NIH] Liver Transplantation: The transference of a part of or an entire liver from one human or animal to another. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Lower Esophageal Sphincter: The muscle between the esophagus and stomach. When a person swallows, this muscle relaxes to let food pass from the esophagus to the stomach. It stays closed at other times to keep stomach contents from flowing back into the esophagus. [NIH]

Luxation: The displacement of the particular surface of a bone from its normal joint, without fracture. [NIH] Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH] Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph). [NIH]

Lymphoblasts: Interferon produced predominantly by leucocyte cells. [NIH] Lymphocyte: A white blood cell. Lymphocytes have a number of roles in the immune system, including the production of antibodies and other substances that fight infection and

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diseases. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Magnetic Resonance Spectroscopy: Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (magnetic resonance imaging). [NIH] Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU] Man-made: Ionizing radiation emitted by artificial or concentrated natural, radioactive material or resulting from the operation of high voltage apparatus, such as X-ray apparatus or particle accelerators, of nuclear reactors, or from nuclear explosions. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanin: The substance that gives the skin its color. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

Metabolic disorder: A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme. [NIH] Metabolite: Any substance produced by metabolism or by a metabolic process. [EU] Methanol: A colorless, flammable liquid used in the manufacture of formaldehyde and acetic acid, in chemical synthesis, antifreeze, and as a solvent. Ingestion of methanol is toxic and may cause blindness. [NIH] Methionine: A sulfur containing essential amino acid that is important in many body functions. It is a chelating agent for heavy metals. [NIH] Methyltransferase: A drug-metabolizing enzyme. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Mice Minute Virus: The type species of parvovirus prevalent in mouse colonies and found as a contaminant of many transplanted tumors or leukemias. [NIH] Microdialysis: A technique for measuring extracellular concentrations of substances in tissues, usually in vivo, by means of a small probe equipped with a semipermeable membrane. Substances may also be introduced into the extracellular space through the membrane. [NIH] Microglia: The third type of glial cell, along with astrocytes and oligodendrocytes (which together form the macroglia). Microglia vary in appearance depending on developmental stage, functional state, and anatomical location; subtype terms include ramified, perivascular, ameboid, resting, and activated. Microglia clearly are capable of phagocytosis and play an important role in a wide spectrum of neuropathologies. They have also been

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suggested to act in several other roles including in secretion (e.g., of cytokines and neural growth factors), in immunological processing (e.g., antigen presentation), and in central nervous system development and remodeling. [NIH] Microorganism: An organism that can be seen only through a microscope. Microorganisms include bacteria, protozoa, algae, and fungi. Although viruses are not considered living organisms, they are sometimes classified as microorganisms. [NIH] Mitochondria: Parts of a cell where aerobic production (also known as cell respiration) takes place. [NIH] Mitosis: A method of indirect cell division by means of which the two daughter nuclei normally receive identical complements of the number of chromosomes of the somatic cells of the species. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monocytes: Large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles. [NIH] Motor Activity: The physical activity of an organism as a behavioral phenomenon. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Musculature: The muscular apparatus of the body, or of any part of it. [EU] Mutagenesis: Process of generating genetic mutations. It may occur spontaneously or be induced by mutagens. [NIH] Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes. [NIH] Myelin: The fatty substance that covers and protects nerves. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neonatorum: Patchy or generalized progressive hardening of the subcutaneous fat, often with fatal outcome, occurring in infants predisposed by reason of prematurity, marasmus, hypothermia, gastro-intestinal or respiratory infection, or gross malformations. [NIH] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH]

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Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neuropathy: A problem in any part of the nervous system except the brain and spinal cord. Neuropathies can be caused by infection, toxic substances, or disease. [NIH] Neurophysiology: The scientific discipline concerned with the physiology of the nervous system. [NIH] Neurotoxic: Poisonous or destructive to nerve tissue. [EU] Neurotoxicity: The tendency of some treatments to cause damage to the nervous system. [NIH]

Neurotransmitter: Any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. Among the many substances that have the properties of a neurotransmitter are acetylcholine, norepinephrine, epinephrine, dopamine, glycine, y-aminobutyrate, glutamic acid, substance P, enkephalins, endorphins, and serotonin. [EU] Neutrophils: Granular leukocytes having a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Norepinephrine: Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nutritional Support: The administration of nutrients for assimilation and utilization by a patient by means other than normal eating. It does not include fluid therapy which normalizes body fluids to restore water-electrolyte balance. [NIH] Odour: A volatile emanation that is perceived by the sense of smell. [EU] Oxidation: The act of oxidizing or state of being oxidized. Chemically it consists in the increase of positive charges on an atom or the loss of negative charges. Most biological oxidations are accomplished by the removal of a pair of hydrogen atoms (dehydrogenation) from a molecule. Such oxidations must be accompanied by reduction of an acceptor molecule. Univalent o. indicates loss of one electron; divalent o., the loss of two electrons. [EU]

Palsy: Disease of the peripheral nervous system occurring usually after many years of increased lead absorption. [NIH] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior

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abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic Juice: The fluid containing digestive enzymes secreted by the pancreas in response to food in the duodenum. [NIH] Pancreatitis: Acute or chronic inflammation of the pancreas, which may be asymptomatic or symptomatic, and which is due to autodigestion of a pancreatic tissue by its own enzymes. It is caused most often by alcoholism or biliary tract disease; less commonly it may be associated with hyperlipaemia, hyperparathyroidism, abdominal trauma (accidental or operative injury), vasculitis, or uraemia. [EU] Paralysis: Loss of ability to move all or part of the body. [NIH] Parenteral: Not through the alimentary canal but rather by injection through some other route, as subcutaneous, intramuscular, intraorbital, intracapsular, intraspinal, intrasternal, intravenous, etc. [EU] Parenteral Nutrition: The administering of nutrients for assimilation and utilization by a patient who cannot maintain adequate nutrition by enteral feeding alone. Nutrients are administered by a route other than the alimentary canal (e.g., intravenously, subcutaneously). [NIH] Parotid: The space that contains the parotid gland, the facial nerve, the external carotid artery, and the retromandibular vein. [NIH] Parvovirus: A genus of the family Parvoviridae, subfamily Parvovirinae, infecting a variety of vertebrates including humans. Parvoviruses are responsible for a number of important diseases but also can be non-pathogenic in certain hosts. The type species is mice minute virus. [NIH] Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologic Processes: The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Penicillin: An antibiotic drug used to treat infection. [NIH] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Peripheral Nervous System: The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. [NIH] Peritoneal: Having to do with the peritoneum (the tissue that lines the abdominal wall and covers most of the organs in the abdomen). [NIH] Peritoneal Cavity: The space enclosed by the peritoneum. It is divided into two portions, the greater sac and the lesser sac or omental bursa, which lies behind the stomach. The two sacs are connected by the foramen of Winslow, or epiploic foramen. [NIH] Peritoneal Dialysis: Dialysis fluid being introduced into and removed from the peritoneal

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cavity as either a continuous or an intermittent procedure. [NIH] Peritoneum: Endothelial lining of the abdominal cavity, the parietal peritoneum covering the inside of the abdominal wall and the visceral peritoneum covering the bowel, the mesentery, and certain of the organs. The portion that covers the bowel becomes the serosal layer of the bowel wall. [NIH] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Pharynx: The hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes to the stomach). [NIH] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Phosphorylated: Attached to a phosphate group. [NIH] Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma protein: One of the hundreds of different proteins present in blood plasma, including carrier proteins ( such albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotension and bradykinin, and many other types of proteins. [EU] Pneumonia: Inflammation of the lungs. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polyposis: The development of numerous polyps (growths that protrude from a mucous

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membrane). [NIH] Porphyria: A group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway. The porphyrias are usually divided into three broad groups, erythropoietic, hepatic, and erythrohepatic, according to the major sites of abnormal porphyrin synthesis. [NIH]

Porphyrins: A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postnatal: Occurring after birth, with reference to the newborn. [EU] Postoperative: After surgery. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] Presynaptic: Situated proximal to a synapse, or occurring before the synapse is crossed. [EU] Probe: An instrument used in exploring cavities, or in the detection and dilatation of strictures, or in demonstrating the potency of channels; an elongated instrument for exploring or sounding body cavities. [NIH] Proctitis: Inflammation of the rectum. [EU] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteolipids: Protein-lipid combinations abundant in brain tissue, but also present in a wide variety of animal and plant tissues. In contrast to lipoproteins, they are insoluble in water, but soluble in a chloroform-methanol mixture. The protein moiety has a high content of hydrophobic amino acids. The associated lipids consist of a mixture of glycerophosphates, cerebrosides, and sulfoglycosphingolipids, while lipoproteins contain phospholipids, cholesterol, and triglycerides. [NIH] Protocol: The detailed plan for a clinical trial that states the trial's rationale, purpose, drug or

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vaccine dosages, length of study, routes of administration, who may participate, and other aspects of trial design. [NIH] Protons: Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion. [NIH] Prune Belly Syndrome: A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. [NIH] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Psychomotor: Pertaining to motor effects of cerebral or psychic activity. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Pulmonary: Relating to the lungs. [NIH] Pulse: The rhythmical expansion and contraction of an artery produced by waves of pressure caused by the ejection of blood from the left ventricle of the heart as it contracts. [NIH]

Race: A population within a species which exhibits general similarities within itself, but is both discontinuous and distinct from other populations of that species, though not sufficiently so as to achieve the status of a taxon. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radioactive: Giving off radiation. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Regurgitation: A backward flowing, as the casting up of undigested food, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. [EU] Retrovirus: A member of a group of RNA viruses, the RNA of which is copied during viral replication into DNA by reverse transcriptase. The viral DNA is then able to be integrated into the host chromosomal DNA. [NIH] Sarcoidosis: An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. [NIH] Scans: Pictures of structures inside the body. Scans often used in diagnosing, staging, and monitoring disease include liver scans, bone scans, and computed tomography (CT) or computerized axial tomography (CAT) scans and magnetic resonance imaging (MRI) scans. In liver scanning and bone scanning, radioactive substances that are injected into the bloodstream collect in these organs. A scanner that detects the radiation is used to create pictures. In CT scanning, an x-ray machine linked to a computer is used to produce detailed

Dictionary 109

pictures of organs inside the body. MRI scans use a large magnet connected to a computer to create pictures of areas inside the body. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Selenium: An element with the atomic symbol Se, atomic number 34, and atomic weight 78.96. It is an essential micronutrient for mammals and other animals but is toxic in large amounts. Selenium protects intracellular structures against oxidative damage. It is an essential component of glutathione peroxidase. [NIH] Semisynthetic: Produced by chemical manipulation of naturally occurring substances. [EU] Serotonin: A biochemical messenger and regulator, synthesized from the essential amino acid L-tryptophan. In humans it is found primarily in the central nervous system, gastrointestinal tract, and blood platelets. Serotonin mediates several important physiological functions including neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity. Multiple receptor families (receptors, serotonin) explain the broad physiological actions and distribution of this biochemical mediator. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Spastic: 1. Of the nature of or characterized by spasms. 2. Hypertonic, so that the muscles are stiff and the movements awkward. 3. A person exhibiting spasticity, such as occurs in spastic paralysis or in cerebral palsy. [EU] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Sperm: The fecundating fluid of the male. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Spleen: An organ that is part of the lymphatic system. The spleen produces lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach. [NIH] Sprue: A non febrile tropical disease of uncertain origin. [NIH]

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Staging: Performing exams and tests to learn the extent of the cancer within the body, especially whether the disease has spread from the original site to other parts of the body. [NIH]

Status Epilepticus: Repeated and prolonged epileptic seizures without recovery of consciousness between attacks. [NIH] Stimulant: 1. Producing stimulation; especially producing stimulation by causing tension on muscle fibre through the nervous tissue. 2. An agent or remedy that produces stimulation. [EU]

Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Subcutaneous: Beneath the skin. [NIH] Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses. [NIH]

Substrate: A substance upon which an enzyme acts. [EU] Sulfoglycosphingolipids: Glycosphingolipids with a sulfate group esterified to one of the sugar groups. [NIH] Supplementation: Adding nutrients to the diet. [NIH] Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Symptomatic: Having to do with symptoms, which are signs of a condition or disease. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Systemic: Affecting the entire body. [NIH] Tetani: Causal agent of tetanus. [NIH] Tetanic: Having the characteristics of, or relating to tetanus. [NIH] Tetanus: A disease caused by tetanospasmin, a powerful protein toxin produced by Clostridium tetani. Tetanus usually occurs after an acute injury, such as a puncture wound or laceration. Generalized tetanus, the most common form, is characterized by tetanic muscular contractions and hyperreflexia. Localized tetanus presents itself as a mild condition with manifestations restricted to muscles near the wound. It may progress to the generalized form. [NIH] Thalamus: Paired bodies containing mostly gray substance and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.

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[NIH]

Thiamine: 3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2methylthiazolium chloride. [NIH]

hydroxyethyl)-4-

Thiamine Pyrophosphate: The coenzyme form of vitamin B1, thiamine, present in many animal tissues. It is a required intermediate in the pyruvate decarboxylase, pyruvate dehydrogenase, and ketoglutarate dehydrogenase reactions. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyrotropin: A peptide hormone secreted by the anterior pituitary. It promotes the growth of the thyroid gland and stimulates the synthesis of thyroid hormones and the release of thyroxine by the thyroid gland. [NIH] Thyroxine: An amino acid of the thyroid gland which exerts a stimulating effect on thyroid metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Tone: 1. The normal degree of vigour and tension; in muscle, the resistance to passive elongation or stretch; tonus. 2. A particular quality of sound or of voice. 3. To make permanent, or to change, the colour of silver stain by chemical treatment, usually with a heavy metal. [EU] Tonus: A state of slight tension usually present in muscles even when they are not undergoing active contraction. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxin: A poison; frequently used to refer specifically to a protein produced by some higher plants, certain animals, and pathogenic bacteria, which is highly toxic for other living organisms. Such substances are differentiated from the simple chemical poisons and the vegetable alkaloids by their high molecular weight and antigenicity. [EU] Transcriptase: An enzyme which catalyses the synthesis of a complementary mRNA molecule from a DNA template in the presence of a mixture of the four ribonucleotides (ATP, UTP, GTP and CTP). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transfusion: The infusion of components of blood or whole blood into the bloodstream. The blood may be donated from another person, or it may have been taken from the person earlier and stored until needed. [NIH] Translation: The process whereby the genetic information present in the linear sequence of ribonucleotides in mRNA is converted into a corresponding sequence of amino acids in a protein. It occurs on the ribosome and is unidirectional. [NIH] Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual,

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between individuals of the same species, or between individuals of different species. [NIH] Trauma: Any injury, wound, or shock, must frequently physical or structural shock, producing a disturbance. [NIH] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin. [NIH] Ultrafiltration: The separation of particles from a suspension by passage through a filter with very fine pores. In ultrafiltration the separation is accomplished by convective transport; in dialysis separation relies instead upon differential diffusion. Ultrafiltration occurs naturally and is a laboratory procedure. Artificial ultrafiltration of the blood is referred to as hemofiltration or hemodiafiltration (if combined with hemodialysis). [NIH] Ultrasonography: The visualization of deep structures of the body by recording the reflections of echoes of pulses of ultrasonic waves directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. [NIH] Uraemia: 1. An excess in the blood of urea, creatinine, and other nitrogenous end products of protein and amino acids metabolism; more correctly referred to as azotemia. 2. In current usage the entire constellation of signs and symptoms of chronic renal failure, including nausea, vomiting anorexia, a metallic taste in the mouth, a uraemic odour of the breath, pruritus, uraemic frost on the skin, neuromuscular disorders, pain and twitching in the muscles, hypertension, edema, mental confusion, and acid-base and electrolyte imbalances. [EU]

Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urinary tract: The organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Vaccines: Suspensions of killed or attenuated microorganisms (bacteria, viruses, fungi, protozoa, or rickettsiae), antigenic proteins derived from them, or synthetic constructs, administered for the prevention, amelioration, or treatment of infectious and other diseases. [NIH]

Valine: A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway. [NIH]

Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasculitis: Inflammation of a blood vessel. [NIH] Vasogenic: Acute peripheral circulatory failure due to loss of capillary tone associated with a reduced circulating blood volume. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Vestibulocochlear Nerve: The 8th cranial nerve. The vestibulocochlear nerve has a cochlear

Dictionary 113

part (cochlear nerve) which is concerned with hearing and a vestibular part (vestibular nerve) which mediates the sense of balance and head position. The fibers of the cochlear nerve originate from neurons of the spiral ganglion and project to the cochlear nuclei (cochlear nucleus). The fibers of the vestibular nerve arise from neurons of Scarpa's ganglion and project to the vestibular nuclei. [NIH] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Viral: Pertaining to, caused by, or of the nature of virus. [EU] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [NIH]

X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

115

INDEX A Abdomen, 85, 88, 101, 105, 108, 109, 110 Abdominal, 85, 100, 101, 105, 106, 108 Abdominal Pain, 85, 100 Acceptor, 85, 96, 104 Acetone, 85, 100 Acetylcholine, 85, 104 Acidemia, 13, 85 Acidity, 85 Acidosis, 7, 10, 15, 85, 93, 100 Acoustic, 85, 87 Acyl, 9, 85 Adrenal Hyperplasia, Congenital, 72, 85 Aerobic, 85, 103 Affinity, 85, 87 Alanine, 22, 86 Albumin, 86, 106 Algorithms, 86, 88 Alimentary, 86, 100, 105 Alkaline, 85, 86 Alleles, 35, 50, 86, 98 Allo, 24, 86 Alternative medicine, 86 Amino Acid Sequence, 86, 95 Ammonia, 86, 97 Amnion, 86 Amniotic Fluid, 29, 86 Anal, 86, 99 Anatomical, 86, 90, 99, 102 Antibodies, 86, 87, 99, 101 Antibody, 86, 87, 91, 98, 99 Antiseptic, 85, 87, 89 Anus, 86, 87, 91, 100 Apoptosis, 12, 27, 40, 87 Arterial, 87, 107 Arteries, 87, 88, 92, 102 Arteriovenous, 25, 42, 87 Artery, 87, 92, 105, 108, 112 Assay, 9, 32, 41, 87 Astringent, 87, 89 Astrocytes, 7, 87, 102 Asymptomatic, 11, 87, 105 Atresia, 58, 87 Atrophy, 87, 101 Auditory, 14, 87 Auditory nerve, 14, 87 Autodigestion, 87, 105 Axonal, 10, 87

B Bacteria, 85, 87, 103, 111, 112 Basal Ganglia, 88 Basophils, 88, 101 Bile, 88, 90, 96, 101 Bile Acids, 88, 96 Bile duct, 88, 90 Biliary, 88, 105 Biliary Tract, 88, 105 Biochemical, 5, 7, 8, 11, 12, 19, 21, 27, 29, 30, 34, 35, 36, 43, 46, 86, 88, 109 Biological Transport, 88, 93 Biosynthesis, 6, 88 Biotechnology, 7, 65, 70, 88 Bladder, 88, 112 Bloating, 88, 100 Blood transfusion, 40, 88 Blood vessel, 88, 90, 101, 112 Blood Volume, 88, 112 Body Fluids, 39, 88, 96, 104 Bone scan, 88, 108 Bradykinin, 88, 106 Brain Diseases, 4, 88 Brain Stem, 89, 90 Bulbar, 38, 89 C Capillary, 88, 89, 112 Carbohydrate, 89, 97 Carbon Dioxide, 89, 93, 106 Carcinogenic, 89, 99 Cardiac, 89, 93, 95, 97, 103 Carrier Proteins, 89, 106 Case report, 13, 24, 29, 33, 44, 54, 89, 95 Catabolism, 17, 21, 89 Catechol, 35, 89 Cell Cycle, 41, 89 Cell Death, 87, 89, 97, 103 Cell Division, 88, 89, 103, 106, 109 Cell membrane, 88, 89, 93, 106 Cell Respiration, 89, 103 Central Nervous System, 85, 86, 88, 89, 96, 97, 103, 109 Cerebellar, 7, 89 Cerebellum, 6, 27, 89, 90 Cerebral, 7, 9, 13, 14, 88, 89, 90, 92, 95, 108, 109 Cerebral Cortex, 88, 90 Cerebrospinal, 6, 90

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Cerebrospinal fluid, 6, 90 Cerebrum, 90 Chin, 90, 102 Chloroform, 90, 107 Cholangitis, 58, 90 Cholecystitis, 58, 90 Cholesterol, 88, 90, 107 Chorion, 90 Chorionic Villi, 21, 90 Chromatin, 87, 90, 95, 104 Chromosomal, 90, 108 Chromosome, 35, 90, 98, 100, 109 Chronic, 90, 96, 99, 105, 112 Circulatory system, 90, 100 Cirrhosis, 58, 90 Clinical trial, 4, 65, 90, 107 Cloning, 13, 88, 90 Coenzyme, 11, 30, 90, 111 Cofactor, 14, 22, 91, 107 Colitis, 58, 91, 100 Collagen, 86, 91, 95 Colon, 91, 100 Complement, 91, 96, 100, 106 Complementary and alternative medicine, 53, 56, 91 Complementary medicine, 53, 91 Complementation, 15, 22, 91 Computational Biology, 65, 91 Computed tomography, 13, 15, 16, 92, 108 Computerized axial tomography, 92, 108 Computerized tomography, 92 Conjugated, 37, 92, 93 Connective Tissue, 91, 92, 96, 101 Consciousness, 92, 110 Constipation, 92, 100 Contraindications, ii, 92 Convulsions, 58, 92 Coordination, 90, 92 Coronary, 92, 102 Coronary Thrombosis, 92, 102 Cortex, 92 Cortical, 7, 92, 109 Cranial, 16, 87, 90, 92, 100, 105, 112 Crossing-over, 92, 108 Cultured cells, 9, 92 Cytochrome, 12, 27, 92 Cytoplasm, 87, 88, 89, 93, 94, 95, 103, 104 D Decarboxylation, 6, 9, 15, 29, 30, 93 Decompensation, 13, 25, 31, 35, 40, 41, 54, 93 Degenerative, 70, 93, 98

Deletion, 12, 27, 29, 37, 87, 93 Dendrites, 93, 104 Dendritic, 9, 93 Depolarization, 12, 93 Dermatitis, 8, 53, 93 Diabetic Ketoacidosis, 93, 100 Diagnostic procedure, 93 Dialyzer, 93, 97 Diarrhea, 93, 100 Diffusion, 18, 26, 30, 35, 48, 88, 93, 112 Digestion, 86, 88, 93, 101, 110 Dimethyl, 53, 93 Diploid, 91, 93, 106 Direct, iii, 93, 94, 108 Dislocation, 32, 93 Distal, 87, 94, 96 Diverticula, 94 Diverticulitis, 58, 94 Diverticulum, 94 Dopamine, 94, 104, 106 Drip, 36, 94 Dyspnea, 93, 94 E Edema, 13, 14, 48, 93, 94, 112 Electrolyte, 94, 96, 97, 104, 112 Electrons, 94, 102, 104, 108 Electroplating, 89, 94 Elementary Particles, 94, 102, 108 Embryo, 86, 94, 107 Emergency Treatment, 31, 94 Encephalopathy, 18, 26, 94 Endorphins, 94, 104 Endotoxins, 91, 94, 100 Enkephalins, 94, 104 Environmental Health, 64, 66, 95 Enzymatic, 19, 86, 91, 95 Enzyme, 6, 15, 20, 32, 36, 41, 42, 44, 85, 91, 95, 96, 97, 102, 106, 110, 111, 113 Enzyme Inhibitors, 95, 106 Eosinophils, 95, 101 Epinephrine, 94, 95, 104, 112 Esophagus, 58, 87, 95, 96, 101, 106, 110 Excitation, 95, 104 Exon, 12, 31, 37, 95 Extracellular, 87, 92, 95, 102 Extracellular Matrix, 92, 95 Extracellular Space, 95, 102 Extracorporeal, 14, 95, 97 F Family Planning, 65, 95 Fat, 95, 100, 101, 103 Fatal Outcome, 95, 103

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Febrile, 95, 109 Fetus, 95, 106, 107 Fibrinogen, 95, 106 Fibroblasts, 15, 19, 20, 21, 22, 24, 30, 33, 35, 38, 40, 41, 42, 95 Fibrosis, 58, 72, 96, 108 Flatus, 96 Fluid Therapy, 96, 104 Fossa, 90, 96 Fructose Intolerance, 58, 96 G Galactitol, 5, 96 Galactokinase, 96 Galactosemia, 5, 43, 58, 72, 96 Gallbladder, 85, 88, 90, 96 Ganglia, 85, 96, 103, 105 Gas, 18, 44, 86, 89, 93, 96, 98, 100, 104 Gastric, 87, 96 Gastritis, 58, 96 Gastroesophageal Reflux, 58, 96 Gene, 9, 15, 21, 27, 29, 30, 32, 34, 35, 37, 43, 86, 88, 96, 109 Genetic Counseling, 22, 96 Genetic Engineering, 88, 90, 96 Genetic Screening, 72, 96 Genetics, 6, 8, 13, 15, 20, 21, 22, 27, 29, 30, 31, 32, 33, 34, 35, 37, 43, 44, 47, 71, 97 Genotype, 97, 106 Giant Cells, 97, 108 Glioma, 41, 97 Gluconeogenesis, 22, 96, 97 Glucose, 7, 22, 96, 97, 100 Glutamate, 6, 97 Glutamic Acid, 97, 104 Glutamine, 6, 97 Glutathione Peroxidase, 55, 97, 109 Glycerophosphates, 97, 107 Glycine, 86, 97, 104 Glycolysis, 7, 97 Governing Board, 97, 107 Granule, 7, 97 H Heme, 92, 97, 107 Hemodialysis, 3, 4, 42, 47, 93, 97, 112 Hemofiltration, 4, 42, 97, 112 Hemoglobin, 97, 100, 101, 107 Hepatic, 86, 96, 98, 107 Hepatitis, 58, 98 Hepatocytes, 98 Heredity, 96, 97, 98 Heterogeneity, 22, 29, 44, 85, 98 Heterozygote, 12, 20, 22, 98

Homologous, 86, 92, 98, 109, 110 Hormone, 86, 95, 98, 99, 111 Hydrogen, 85, 89, 97, 98, 103, 104, 108 Hydrogen Peroxide, 97, 98 Hydrophobic, 6, 98, 107 Hydroxy Acids, 12, 98 Hydroxyproline, 86, 91, 98 Hyperreflexia, 98, 110 Hypogammaglobulinemia, 25, 98 Hypoglycemia, 22, 23, 96, 98 Hypotension, 92, 98 Hypothalamus, 88, 98 Hypothermia, 98, 103 Hypothyroidism, 36, 43, 72, 99 I Idiopathic, 99, 108 Immortal, 6, 99 Immune response, 99, 110, 113 Immune system, 99, 101, 113 Immunodeficiency, 98, 99 Immunoglobulins, 25, 99, 106 Impairment, 3, 6, 12, 99, 102 Imperforate Anus, 58, 99 In vitro, 6, 19, 99 In vivo, 5, 99, 102 Incompetence, 96, 99 Infancy, 40, 99 Infantile, 99, 101 Infarction, 92, 99, 102 Infection, 99, 101, 103, 104, 105, 110, 113 Inflammation, 86, 90, 91, 93, 94, 96, 98, 99, 105, 106, 107, 112 Infusion, 99, 111 Ingestion, 53, 54, 55, 96, 99, 102 Initiation, 5, 99 Insulin, 19, 33, 40, 93, 99, 100 Insulin-dependent diabetes mellitus, 100 Intermittent, 21, 24, 34, 44, 45, 47, 57, 96, 100, 106 Interstitial, 48, 95, 100 Intestinal, 100, 103 Intestines, 85, 87, 100 Intracellular, 24, 99, 100, 109 Intracranial Pressure, 28, 100 Intramuscular, 100, 105 Intravenous, 32, 99, 100, 105 Invasive, 100, 102 Ion Channels, 87, 100 Irritable Bowel Syndrome, 58, 100 Isoleucine, 10, 16, 18, 24, 38, 45, 58, 100 K Karyotypes, 96, 100

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Kb, 27, 64, 100 Ketoacidosis, 6, 85, 100, 101 Ketone Bodies, 6, 85, 93, 100, 101 Ketonuria, 24, 44, 73, 100 Ketosis, 93, 100, 101 Kinetic, 10, 101 L Laceration, 101, 110 Lens, 96, 101 Lesion, 21, 101 Lethargy, 81, 99, 101 Leucine, 15, 18, 19, 24, 40, 41, 45, 47, 48, 58, 73, 101 Leucocyte, 101 Leukocytes, 41, 88, 95, 101, 103, 104 Lipid, 9, 100, 101, 107 Lipodystrophy, 58, 101 Liver, 13, 25, 59, 85, 86, 88, 90, 96, 98, 101, 108 Liver scan, 101, 108 Liver Transplantation, 13, 101 Localization, 35, 101 Localized, 5, 99, 101, 106, 110 Lower Esophageal Sphincter, 96, 101 Luxation, 93, 101 Lymph, 90, 101, 108 Lymph node, 101, 108 Lymphoblasts, 30, 101 Lymphocyte, 6, 101 Lymphoid, 15, 44, 87, 101, 102 M Magnetic Resonance Imaging, 18, 30, 31, 102, 108 Magnetic Resonance Spectroscopy, 4, 41, 50, 102 Manifest, 87, 102 Man-made, 89, 102 MEDLINE, 65, 102 Melanin, 102, 106, 112 Membrane, 12, 27, 86, 87, 89, 90, 91, 93, 95, 100, 102, 106, 107 Mental, iv, 4, 6, 25, 64, 66, 73, 90, 99, 102, 108, 112 Mental Retardation, 6, 25, 73, 102 Metabolic disorder, 36, 40, 57, 102 Metabolite, 5, 93, 102 Methanol, 102, 107 Methionine, 93, 102 Methyltransferase, 35, 102 MI, 11, 82, 102 Mice Minute Virus, 102, 105 Microdialysis, 50, 102

Microglia, 87, 102 Microorganism, 91, 103, 113 Mitochondria, 16, 103 Mitosis, 87, 103 Modification, 21, 86, 96, 103 Molecular, 6, 12, 13, 16, 20, 34, 35, 42, 65, 67, 88, 92, 95, 103, 111 Molecule, 90, 91, 95, 103, 104, 108, 111 Monocytes, 101, 103 Motor Activity, 92, 103 Muscle Fibers, 9, 103 Musculature, 103, 108 Mutagenesis, 19, 103 Mutagens, 103 Myelin, 9, 36, 103 Myocardium, 102, 103 N Necrosis, 87, 99, 102, 103, 108 Neonatal, 15, 18, 25, 27, 36, 40, 47, 103 Neonatorum, 8, 103 Nerve, 10, 70, 87, 90, 93, 103, 104, 105, 111, 112 Nervous System, 4, 82, 89, 103, 104, 105 Neural, 12, 27, 103, 104 Neuronal, 7, 104 Neurons, 7, 93, 96, 104, 110, 113 Neuropathy, 10, 104 Neurophysiology, 93, 104 Neurotoxic, 3, 104 Neurotoxicity, 30, 104 Neurotransmitter, 6, 19, 85, 86, 88, 94, 97, 100, 104, 110 Neutrophils, 101, 104 Nitrogen, 97, 104 Norepinephrine, 94, 104 Nuclei, 94, 96, 102, 103, 104, 108, 113 Nucleus, 87, 88, 90, 93, 94, 95, 103, 104, 108, 113 Nutritional Support, 14, 104 O Odour, 53, 54, 104, 112 Oxidation, 40, 48, 85, 92, 93, 97, 104 P Palsy, 14, 38, 104, 109 Pancreas, 85, 99, 104, 105 Pancreatic, 96, 105 Pancreatic Juice, 96, 105 Pancreatitis, 42, 105 Paralysis, 89, 105, 109 Parenteral, 13, 46, 105 Parenteral Nutrition, 13, 46, 105 Parotid, 105, 108

119

Parvovirus, 25, 102, 105 Pathologic, 85, 87, 88, 92, 105 Pathologic Processes, 87, 105 Patient Education, 71, 76, 78, 83, 105 Penicillin, 105, 112 Peptide, 29, 86, 105, 106, 107, 111 Peripheral Nervous System, 95, 104, 105, 110 Peritoneal, 4, 14, 39, 42, 58, 82, 105 Peritoneal Cavity, 105, 106 Peritoneal Dialysis, 4, 14, 42, 58, 105 Peritoneum, 105, 106 Pharmacologic, 106, 111 Pharynx, 96, 106 Phenotype, 18, 42, 43, 91, 106 Phenylalanine, 18, 45, 106, 112 Phospholipids, 95, 106, 107 Phosphorus, 106 Phosphorylated, 90, 106 Phosphorylation, 6, 106 Physiologic, 88, 106, 108 Placenta, 90, 106 Plants, 89, 96, 97, 104, 106, 111 Plasma, 17, 18, 19, 30, 39, 41, 42, 43, 44, 47, 54, 55, 82, 86, 87, 88, 89, 95, 97, 106 Plasma protein, 54, 86, 106 Pneumonia, 92, 106 Polypeptide, 86, 91, 95, 106 Polyposis, 58, 106 Porphyria, 58, 107 Porphyrins, 107 Posterior, 86, 90, 104, 107 Postnatal, 26, 107 Postoperative, 40, 44, 107 Practice Guidelines, 66, 107 Precursor, 94, 95, 104, 106, 107, 112 Prenatal, 9, 29, 30, 32, 55, 94, 97, 107 Prenatal Diagnosis, 9, 29, 32, 107 Presynaptic, 104, 107 Probe, 102, 107 Proctitis, 58, 107 Progressive, 90, 103, 107 Protein S, 88, 107 Proteins, 36, 86, 89, 90, 91, 100, 103, 104, 105, 106, 107, 109, 112 Proteolipids, 12, 107 Protocol, 6, 107 Protons, 98, 102, 108 Prune Belly Syndrome, 58, 108 Psychic, 102, 108, 109 Psychomotor, 27, 108 Public Policy, 65, 108

Pulmonary, 97, 108, 112 Pulse, 5, 108 R Race, 46, 100, 108 Radiation, 94, 102, 108, 113 Radioactive, 88, 98, 101, 102, 108 Receptor, 19, 94, 108, 109 Recombination, 27, 108 Rectum, 87, 91, 96, 107, 108 Refer, 1, 58, 91, 94, 101, 108, 111 Regurgitation, 96, 108 Retrovirus, 15, 108 S Sarcoidosis, 58, 108 Scans, 31, 108 Screening, 11, 22, 26, 35, 36, 37, 43, 54, 71, 72, 90, 97, 109 Secretion, 99, 100, 103, 109 Segregation, 108, 109 Seizures, 46, 81, 109, 110 Selenium, 54, 55, 109 Semisynthetic, 37, 109 Serotonin, 104, 109 Serum, 5, 19, 86, 91, 109 Side effect, 109, 111 Skull, 100, 109 Spastic, 100, 109 Specialist, 73, 109 Species, 95, 100, 102, 103, 105, 108, 109, 112 Sperm, 90, 109 Spinal cord, 87, 89, 90, 103, 104, 105, 109 Spleen, 108, 109 Sprue, 58, 109 Staging, 108, 110 Status Epilepticus, 27, 110 Stimulant, 110, 112 Stomach, 85, 87, 95, 96, 98, 100, 101, 105, 106, 109, 110 Stool, 91, 100, 110 Stress, 100, 110 Subclinical, 99, 109, 110 Subcutaneous, 94, 101, 103, 105, 110 Substance P, 102, 109, 110 Substrate, 6, 95, 110 Sulfoglycosphingolipids, 107, 110 Supplementation, 54, 55, 110 Support group, 58, 73, 110 Symptomatic, 4, 105, 110 Synaptic, 104, 110 Systemic, 3, 95, 99, 108, 110

120

Maple Syrup Urine Disease

T Tetani, 110 Tetanic, 110 Tetanus, 8, 110 Thalamus, 88, 110 Thiamine, 6, 7, 8, 18, 43, 45, 57, 111 Thiamine Pyrophosphate, 6, 111 Thyroid, 99, 111, 112 Thyrotropin, 99, 111 Thyroxine, 86, 106, 111 Tomography, 13, 30, 102, 111 Tone, 58, 111, 112 Tonus, 111 Toxic, iv, 46, 47, 102, 104, 109, 111 Toxicology, 66, 111 Toxin, 4, 110, 111 Transcriptase, 108, 111 Transfection, 88, 111 Transfusion, 20, 111 Translation, 86, 111 Transmitter, 85, 87, 94, 100, 104, 111 Transplantation, 25, 111 Trauma, 103, 105, 112 Tyrosine, 45, 94, 112 U Ultrafiltration, 97, 112

Ultrasonography, 16, 112 Uraemia, 105, 112 Urethra, 112 Urinary, 37, 108, 112 Urinary tract, 108, 112 V Vaccines, 112, 113 Valine, 18, 45, 47, 58, 73, 112 Vascular, 90, 99, 106, 112 Vasculitis, 105, 112 Vasogenic, 48, 112 Vein, 87, 100, 105, 112 Venous, 87, 93, 107, 112 Ventricle, 98, 108, 110, 112 Vestibulocochlear Nerve, 87, 112 Veterinary Medicine, 65, 113 Viral, 97, 108, 113 Virus, 6, 96, 97, 113 Vitro, 113 Vivo, 5, 113 W White blood cell, 87, 101, 102, 113 X X-ray, 92, 102, 108, 113 Y Yeasts, 106, 113