Inborn Metabolic Diseases Diagnosis and Treatment

Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, includin

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John Fernandes Jean-Marie Saudubray Georges van den Berghe John H. Walter (Editors)

Inborn Metabolic Diseases Diagnosis and Treatment Fourth, Revised Edition With 65 Figures and 63 Tables

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John Fernandes Department of Pediatrics University Hospital Groningen Private address: Burgemeester Weertslaan 31 8162 DP Epe, The Netherlands

Jean-Marie Saudubray Unité de Métabolisme Département de Pédiatrie Hôpital Necker Enfants Malades 149 Rue de Sèvres 75043 Paris Cedex 15, France

Georges van den Berghe Metabolic Research Group Christian de Duve Institute of Cellular Pathology University of Louvain Medical School Avenue Hippocrate 75-39 1200 Brussels, Belgium

John H. Walter Willink Biochemical Genetics Unit Royal Manchester Children’s Hospital Hospital Road, Pendlebury Manchester M27 4HA, Great Britain

Library of Congress Control Number: 2006928830 ISBN-10 3-540-28783-3 Springer Medizin Verlag Heidelberg ISBN-13 978-3-540-28783-4 Springer Medizin Verlag Heidelberg This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer. Violations are liable to prosecution under the German Copyright Law. Springer Medizin Verlag springer.com © Springer Medizin Verlag Heidelberg 2000, 2006 Printed in Germany The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about the application of operative techniques and medications contained in this book. In every individual case the user must check such information by consulting the relevant literature. Editor: Renate Scheddin Project Manager: Meike Seeker SPIN 10989814 Cover design: deblik Berlin Typesetting: Fotosatz-Service Köhler GmbH, Würzburg, Germany Printing and Binding: Stürtz GmbH, Würzburg, Germany Printed on acid-free paper

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Preface Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4th edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included,