Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases PDF
Preview Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases 2nd Edition N. Blau . M. Duran M. E. Blaskovics . K. M. Gibson (Eds.) Physician's Guide to the Laboratory Diagnosis of Metabolic O·seases Second Edition Foreword by C. R. Scriver With 100 Figures and 270 Tables ~ Springer Nenad Blau Marinus Duran Division of Clinica} Chemistry Academic Medical Center and Biochemistry Dept. of Pediatrics University Children's Hospital and Clinica! Chemistry Steinvviesstrasse 75 Meibergdreef 9 8032 Ziirich 1105 AZ Amsterdam Svvi tzer land The Netherlands e-mail: [email protected] e-mail: [email protected] Milan E. Blaskovics K. Michael Gibson 3639 Amesbury Road Biochemical Genetics Laboratory Los Angeles, CA 90027 Dept. of Molecular and Med. Genetics USA Oregon Health & Science University e-mail: [email protected] 2525 SW 3rd Avenue, Suite 350 Portland, Oregon 97201, USA e-mail: [email protected] ISBN 978-3-642-62709-5 ISBN 978-3-642-55878-8 (eBook) DOI 10.1007/978-3-642-55878-8 Title of the 1st Edition: N. Blau, M. Duran, M.E. Blaskovics Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases © 1996 Chapman & Hali Library of Congress Cataloging-in-Publication Data Physician's guide to the laboratory diagnosis of metabolic diseases/ [edited by] N. Blau .. [el al.].- 2nd ed. p.; cm. Includes bibliographical references and index. ISBN 978-3-642-62709·5 (hd.: alk.paper) 1. Metabolism - Disorders - Diagnosis - Handbooks, manuals, etc. 2. Metabolism, Inborn errors of-Diagnosis - Handbooks, manuals, etc. 3. Diagnosis, Laboratory- Handbooks, manuals, etc. !. Blau, N. (Nenad), 1946 - [DNLM: 1. Metabolism, Inborn Errors - diagnosis. 2. Diagnosis, Differential. 3. Laboratory Techniques and Procedures. VVD 205 P578 2002] RB147.P476 2002 616.3'9075-dc21 2002021642 This work is subject to copyright. Ali 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-Verlag. Viola tions are liable for prosecution under the German Copyright Law. springeronline.com © Springer-Verlag Berlin Heidelberg 2003 Originally published by Springer-Verlag Berlin Heidelberg New York in 2003 Softcover reprint of the hardcover 2nd edition 2003 The use of general descriptive names, 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 protec tive laws and regulations and therefore free for general use. Produc! liability: The publishers cannot guar antee 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. Graphics: Giinther Hippmann, Niirnberg Typesetting: K +V Fotosatz, Beerfelden Cover-Design: Erich Kirchner, Heidelberg SPIN 11319092 24/3150 PF 5 4 3 2 1 o Foreword to 2nd Edition The first edition of this book, published in 1996, was a success (at least in one way - it is sold out) because it provides useful information and thus enhances the care of patients with hereditary metabolic diseases. One mes sage in the original Foreword is having a particular impact; the present edi tion of the Book will have a CD-ROM format, allowing authors to provide pictures, chromatograms or even short videos. All of the books serving our field are moving in this direction. Significant developments have occurred over the past six years between editions of the Physician's Guide. For example, a draft sequence of the Hu man Genome is now available. As genes are identified there has been a pro liferation of locus specific mutation databases (http://ariel.ucs.unimelb. edu.au:80/-cotton/mdi.htm), many of them linked to OM1M (http:// www.ncbi.nlm.nih.gov/Omim/). These databases and much other valuable information are also accessible through the Human Genome Sequencing Consortium and Human Genome Central (http://www.ensembl.org/genome/ central). The relevance of mutation analysis at loci associated with disease and its practical role in medicine have become significant concerns and they will form a leitmotif in this Book. Meantime, the number of so-called orphan genetic diseases, among them the hereditary metabolic diseases, increases. One can identify many of them through OM 1M, the "genomic catalogue" of human phenotypic variation. The fact of this increase means that the Physician's Guide is ever challenged; it will always be attempting to keep up with what is new. When it is on-line and becomes a continuously expanding Physician's Guide, it will be able to do that; it will become a complementary resource to those many others serving genetic medicine. Tandem mass spectrometry has entered the diagnostic arena; this powerful technology is now in place at referral centers across the world. As an important resource in laboratory diagnosis of metabolic diseases, it is expanding the repertoire of diagnoses and problems to address. Here is an other reason for continuing relevance of the Physician's Guide. The range of resources for patients and for those who care for them also grows. For example, GeneTests (http://www.genetests.org) is a reliable curated knowledge base in which many inborn errors of metabolism ap- VI Foreword to 2nd Edition pear with links to other resources. Yet another for readers of this book, is Metab-L (http://www.franken.de/lists/metab-l!) a listserve acting as a site for information exchange. It is not hard to predict a long and useful life for the Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, in its present form, its transformations and its links. Charles R. Scriver Foreword to 1s t Edition The medical model of disease, which has served the practice of medicine well, proposes that a cause of disease - no matter what the cause or the disease - initiates a deviant process - called pathogenesis - which culmi nates in manifestations of the disease. The manifestations are its taxonomy and from them one initiates another process leading to diagnosis. Correct treatment depends upon diagnosis. All error in, or an absence of, diagnosis leaves manifestations naked, pathogenesis is not reversed and cause con tinues to initiate the disease. This book is about diagnosis. The necessary or sufficient causes of the diseases described here are mutations in genes responsible for important steps in the metabolic mosaic that underlies health. Garrod recognized that inborn errors of metabolism are manifestations of biochemical individual ity. The importance of this observation was recognized by biologists but they made little impression on the practitioners of medicine during Gar rod's lifetime. Even today, the inborn errors of metabolism are believed to be rare encounters in medicine and likely never to be seen in a typical medical practice. How wrong it would be to see things that way in 1996. The inborn errors of metabolism induce disease manifestations in every or gan and at every life interval from the fetus to the geriatric patient, and they are ubiqitous in their appearance, with little regard for the qualifica tions of the physician - generalist or specialist. It is a sign of the times that this book is called Physician's Guide .. , Such a book is something Garrod might have hoped for but was realist enough not to expect its appearance in his library. Even in the half century since Garrod's death in 1935 few physicians have experienced the excitement in diagnosis of an hereditary metabolic disease. A generation ago an enter prising publishing firm sponsored a series of advanced monographs for practitioners; those that dealt with problems affecting patients in large numbers with overt clinical problems that could be addressed by readily available resources and technologies did well and went into further edi tions; those devoted to genetic and metabolic themes did not. The present adventurous text implies that the times have changed. Whereas screening programs have become widely established to detect selected inherited metabolic diseases long before the clinical signs appear, VIII Foreword to 1st Edition the majority of diseases discussed in Physician's Guide will present first to the practising physician; he or she will identify the patient's disease first; it will be a challenge, and that is why the clinical features of these diseases are given prominence first here. Why would already overworked editors and authors be willing to devote their time to preparing the texts, tables and appendices that comprise Phy sician's Guide? May I offer these reasons? • In aggregate, the inborn errors are indeed not rare, they are prevalent and they involve an increasingly large number of humans requiring in tensive, often lifelong, health care. Accordingly, diagnosis to set them on the right path is important. • The methods of diagnosis described in this book will also be those used to monitor treatment and management of the patient's disease. • The inborn errors of metabolism constitute a group of diseases about which there is an enormous amount of information; more in fact than for almost any other set of diseases. Such knowledge is beneficial to practitioner and patient. • Should one still believe that the inborn errors of metabolism are eso teric, consult any major general textbook of pediatric or general medi cine, or the Oxford Medical Companion, second edition. All of the for mer describe these problems; the latter - a vastly informative encyclope dia about the science and the practice of medicine - has a fine entry on the inborn errors of metabolism. The topic has found numerous harbors in the medical seascape. The core of information common to each chapter of the Physician's Guide comprises: • The major clinical and chemical signs initiating the diagnostic journey. In many cases they are translated into diagnostic algorithms. Perhaps they will be translated further into versions accessible on CD-ROM. • Simple tests, both those that serve screening programs and those that can be done at the bedside, in physicians' offices or in nonspecialist lab oratories. This information will replace a number of well-worn manuals and publications of a generation ago. • Special tests done primarily at referral centers and whose interpretation is part of the Physician's Guide's lode of information. Useful practical matters such as how to collect and store the particular sample are described. • Phenotype tests, primarily at chemical and biochemical levels (metabo lites and enzymes) are emphasized. Genetic information is provided to indicate how much genetic and allelic heterogeneity may be associated with the phenotype. A later edition of this book may expand into the area of mutation detection and DNA diagnostics, but at present the phe notype tests are robust and remain powerful. Foreword to 1st Edition IX • The authors have also gone beyond diagnosis to provide useful informa- tion about initial and emergency treatments. The Physician's Guide is a work of dedication and if there is fairness in the scheme of things it will find a place on many a practitioner's shelf. Those who use it will no longer be limited to a small group of specialists - I re peat, because diagnosis and care of the patient with hereditary metabolic disease is expanding beyond that small original community of practitioners into all medical specialties, and into internal medicine as the child patients grow into adulthood, thanks to advances in diagnosis and treatment. Ac cordingly, this book will not only be a guide, it will be a companion and it will complement very nicely the other major texts in the field. Charles R. Scriver Preface to 2nd Edition The premise upon which the first edition of this book was based has not changed. Specialization in medicine has decreased, more generalists are en couraged, and governments have reduced programs for postdoctoral train ing. As a consequence, the little that is taught in Medical schools about in born errors of metabolism is, if anything, less than before. The area of molecular genetics dealing with the mechanisms and the ba sic fault in an inborn error of metabolism, on the other hand, has in creased almost exponentially. Unfortunately, this area of science can only operate to deduce the problem after a fault has been recognized. It is the recognition of the patient with a fault, the so-called "inherited" defects that this book is about. The book is therefore targeted towards phy sicians and other individuals dealing with diagnosing these relatively rare disorders. Recognizing an individual with these disorders is often difficult because of the fact that they "blend in" with many common medical condi tions. The signs and symptoms often do not stand out so that a patient may live for years with recurring problems and the condition never cor rectly diagnosed. This book presents the signs and symptoms of most of the recognized inborn errors of metabolism in relation to age. There is a chronological se quence of signs and symptoms from infancy through childhood, adoles cence and adulthood, and in addition, normal and pathological values are provided for each of the disorders so that one does not have to wonder about the significance of laboratory tests and reported values. Recognized authorities describe each disorder. Based upon their experi ence, they have created flow charts and diagnostic algorithms and recom mend confirmatory tests and initial treatment schemes to help the unini tiated. Since the first edition was published in 1996, 43 new disorders have been recognized and are described in this edition. There is little doubt that more new disorders will be recognized, so that this current effort is really a "work in progress". To that end, this edition is utilizing the progress made with computer technology to make accessing the data a little easier. A CD-ROM is in- XII Preface to 2nd Edition eluded with this edition that will allow the user to find a disorder and search via a program which uses key words. Nenad Blau Marinus Duran Milan E. Blaskovics K. Michael Gibson
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