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Vademecum Metabolicum About Diaognosis and Treatment of Inborn Errors of Metabolism Johannes Zschocke Georg F. Hoffmann Diagnosis and Treatment of Inborn Errors of Metabolism Access web version The electronic version of the bookVademecum Metabolicum ” is based on the third English print edition: Vademecum Metabolicum, 3rd revised edition, ISBN 978-3-7945-2816-5 ©: 1999, 2004, 2011 Milupa Metabolics GmbH, 61381 Friedrichsdorf, Germany www.nutricia-metabolics.info Johannes Zschocke, Dr. med. habil., PhD Professor and Chair of Human Genetics Medical University Innsbruck Schöpfstraße 41, 6020 Innsbruck Austria Georg F. Hoffmann, Dr. med. habil. Professor and Chair of Paediatrics Ruprecht-Karls-University Im Neuenheimer Feld 430, 69120 Heidelberg Germany e-Editor: Clara van Karnebeek , Vancouver, Canada e-Developer: Jessica Lee , Vancouver, Canada e-Publishing: Roderick Houben , Vancouver, Canada Foreword Preface Important Note Contributors Support Tab 1 It is my pleasure to write the Foreword for the electronic version of the Vademecum Metabolicum. This very useful book has been available in many languages, including English and German. Its scope, like the field of inborn errors of metabolism, has continued to grow. At the same time, the book has remained true to its original objective of providing a systematic and practical approach to the diagnosis of metabolic disease. Revisions have brought the book up to date. Extensive tabular presentation leads the reader logically to the various diagnostic possibilities. Optimal therapy, including dosages, makes for a well-rounded approach to the diagnosis and management of genetic diseases of metabolism. The book has always been small enough to fit in a pocket, and became a favourite of physicians in training in Paediatrics and Genetics. It is very welcome that the Vademecum Metabolicum is now also available as an app for mobile devices. Hopefully the new electronic version of the Vademecum Metabolicum will make it even more accessible to the busy clinician, to the benefit of patients with inherited metabolic diseases. William L. Nyhan, San Diego, USA Tab 2 Inborn errors of metabolism, which cumulatively affect approximately one in every 500 newborns, represent a special challenge in general and paediatric practice. They frequently present with acute, life-threatening crises that require immediate specific intervention. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic defects in various biochemical pathways makes it difficult to be familiar with all diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum was written to provide practical guidance to the clinician. It was first published in German in 1997 (now in the 4th edition) and was translated into nine other languages including English, Italian, French, Polish, Portuguese, Japanese, Chinese, Russian, and Farsi. The current primary print version is the 3rd English edition which is also the basis of the present electronic version of the Vademecum Metabolicum. As in the print editions, there are two conceptually different sections, a systematic presentation of individual metabolic pathways and their disorders (one entry in the electronic table of contents) and several chapters on the diagnosis and management of metabolic disorders based on clinical situations that may be caused by a metabolic disorder (several entries in the electronic table of contents). In the systematic pathway-based section, special emphasis has been placed on clinical features that are relevant to a whole group of diseases, useful diagnostic procedures (basic and special diagnostic tests) as well as details on emergency intervention and long-term treatment. The pathobiochemistry is described in more detail when it is relevant to the understanding of clinical symptoms and diagnostic tests. Practical guidelines are discussed in detail and should reflect standard practice in many countries. The sequence of the entries is either according to metabolic pathways or nomenclature. The genetic basis of most disorders in the Vademecum Metabolicum has now been clarified, and the causative genes have been included when known. Throughout the text we have removed references to molecular studies as part of the diagnostic strategy since mutation analyses are now a standard option for confirmation of most metabolic disorders. Inheritance of the disorders is autosomal recessive unless specified otherwise. Tab 3 Medicine is an ever-changing science, so the contents of this publication, especially recommendations concerning diagnostic and therapeutic procedures, can only give an account of the knowledge at the time of publication. While utmost care has been taken to ensure that all specifications regarding drug selection and dosage and treatment options are accurate, readers are urged to review the product information sheet and any relevant material supplied by the manufacturer, and, in case of doubt, to consult a specialist. The publisher will appreciate – also in the public’s interest – to be informed of possible inconsistencies. The ultimate responsibility for any diagnostic or therapeutic application lies with the reader. No special reference is made to registered names, proprietary names, trademarks etc. in this publication. The appearance of a name without designation as proprietary does not imply that it is exempt from the relevant protective laws and regulations and therefore free for general use. This publication is subject to copyright, all rights are reserved, whether the whole or part of the material is concerned. Any use of this publication outside the limits set by copyright legislation, without the prior written permission of the publisher, is liable to prosecution. Tab 4 The electronic version of the Vademecum Metabolicum was realized with great effort from Clara van Karnebeek and Jessica Lee, Vancouver, with important support from Roderick Houben, Vancouver. Thank you very much! We are grateful to the large number of current contributors who have provided content to particular sections and help to keep the content of the Vademecum Metabolicum up to date. We also wish to thank Marinus Duran, Amsterdam, James V. Leonard, London, Verena Peters, Heidelberg, Jan A. M. Smeitink, Nijmegen, Udo Wendel, Düsseldorf, and Nicole Wolf, Amsterdam, who contributed to previous editions of this book. Contributors are not responsible for the final text versions which is the full responsibility of the authors. Alberto B. Burlina, Padova, Italy Roberto Giugliani, Porto Alegre, Brazil Martin Lindner, Heidelberg, Germany Yoichi Matsubara, Sendai, Japan Ertan Mayatepek, Düsseldorf, Germany Shamima Rahman, London, UK Jörn Oliver Sass, Freiburg, Germany Wolfgang Sperl, Salzburg, Austria Jerry Vockley, Pittsburgh, USA Kurt Widhalm, Vienna, Austria Ed Wraith, Manchester, UK Tab 5 Please send us information on bugs and suggestions for improvements at mail@vademetab.org The web version works best using the latest version of all modern browsers: Chrome, Firefox, Safari, Edge and Explorer 9+ Read our privacy policy here We are grateful to the sponsors of the electronic version of the Vademecum Metabolicum who enable us to make this resource available free of charge world-wide: This page was last updated on: 2019-01-10 © 2016 - 2019 All rights reserved mail@vademetab.org Currently...