Physician's Guide to the Treatment and Follow-up of Metabolic Diseases - N. Blau, et al., (Springer, 2006) WW.pdf

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Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases
Nenad Blau · Georg F. Hoffmann
James Leonard · Joe T. R. Clarke
(Eds.)
Physician’s Guide
to the Treatment
and Follow-Up
of Metabolic Diseases
Foreword by C. R. Scriver
With 12 Figures and 267 Tables
123
1306112618.001.png
 
Nenad Blau
Division of Clinical Chemistry
and Biochemistry
University Children’s Hospital
Steinwiesstrasse 75
8032 Zurich
Switzerland
e-mail: nenad.blau@kispi.unizh.ch
Georg F. Hoffmann
Universitätsklinik für Kinder-
und Jugendmedizin
Im Neuenheimer Feld 150
D-69120 Heidelberg
Germany
e-mail:
Georg_Hoffmann
@med.uni-heidelberg.de
James Leonard
Biochemistry, Endocrinology
and Metabolism Unit
Institute of Child Health
30, Guilford Street
London, WC1N 1EH
UK
e-mail: j.leonard@ich.ucl.ac.uk
Joe T. R. Clarke
Division of Clinical
& Metabolic Genetics
Hospital for Sick Children
555 University Avenue
Toronto, Ontario, M5G 1X8
Canada
e-mail: jtrc@sickkids.ca
Library of Congress Control Number: 2004110452
ISBN-10 3-540-22954-X Springer-Verlag Berlin Heidelberg New York
ISBN-13 978-3-540-22954-4 Springer-Verlag Berlin Heidelberg New York
This work is subject to copyright. All rights are reserved, whether the whole or part of the mate-
rial is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation,
broadcasting,reproductiononmicrofilmorinanyotherway,andstorageindatabanks.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 is part of Springer Science+Business Media
springeronline.com
© Springer-Verlag Berlin Heidelberg 2006
Printed in Germany
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
protective laws and regulations and therefore free for general use.
Product liability: the publisher cannot guarantee the accuracy of any information about dosage and
application contained in this book. In every individual case the user must check such information
by consulting the relevant literature.
Editor: Gabriele Schröder, Heidelberg, Germany
Desk Editor: Irmela Bohn, Germany
Production: ProEdit GmbH, Heidelberg, Germany
Cover: Frido Steinen-Broo, EStudio Calamar, Spain
Typesetting: LE-T E X, Jelonek, Schmidt & Vöckler GbR, Leipzig, Germany
Printed on acid-free paper
24/3151ML 543210
Foreword
The greatest difficulty in life is to make knowledge effective, to convert it into
practical wisdom. Sir William Osler.
The inborn errors of metabolism, as a group of metabolic diseases, are rela-
tively rare and are sometimes called “orphan diseases.” As a group, they account
for about 1 in 2,500 births (Applegarth et al. 2000) and, as a cumulative group
reaching 20 years of age, their prevalence is about 40 cases per 100,000 popula-
tion. In terms of patient days of continuous supervision and care, hundreds of
thousands of such days are involved per generation of these patients. Although
experience with these diseases as a class may be small and people expert in
their management may be relatively few, in the years to come many caregivers
will become involved. This book offers help to them.
Until the mid-twentieth century, hereditary metabolic and other genetic
diseases were considered to be purely “genetic” problems. Destiny would take
its course, treatment did not exist, and genetic counseling about recurrence
risks was virtually all that could be offered. Phenylketonuria (PKU) was then
shown to be a treatable genetic disease in which early diagnosis and effective
treatment prevented the disease (mental retardation) in PKU. Other genetic
diseases for which an environmental experience was an essential component
of cause (e. g., exposure to a dietary component or a drug) were then seen
to yield to treatment. Combinations of early diagnosis and access to treat-
ment began to change our outlook. Accordingly, diagnosis is the natural focus
of our companion book ( The Physician’s Guide to the Laboratory Diagnosis
of Metabolic Disease ); the present volume focuses on treatment and follow-
up.
Over the past two decades, systematic analyses of treatment outcomes for
genetic disease have been attempted (Hayes et al. 1985; Treacy et al. 1995, 2001).
There has been slowbut significant progress overall, reflecting improvements in
treatment protocols, in the therapeutic agents (drugs and foods, for example),
in tissue transplantation, and in enzyme replacement by other means.
Now there is another problem. Patients with treatable hereditary metabolic
disease grow up and become adult-age subjects. For them, treatment continues
but under newauspices. The net result is an ever-growing community of persons
in need of continuing care (Lee 2002, 2003). This book also addresses that
challenge.
 
VI
Foreword
The Physician’s Guide to the Treatment and Follow-up of Metabolic Disease
is not an in-depth reference resource such as may be found elsewhere. This new
book is concise, its information is succinct, and it describes procedures of as-
sistance to patients in need of continuous care and support. Approximately 300
different disorders are identified for which a documented therapeutic modality
is available. How to monitor the therapeutic effect is described.
One of the legacies of the Human Genome Project is ignorance; we know
so little about our genome and how it works. On the other hand, the project is
a significant beginningof newknowledge fromwhichnew forms of treatment, to
neutralize the effect of mutant disease-causing alleles, will emerge. Accordingly
one can anticipate a long life for The Physician’s Guide to the Treatment and
Follow-up of Metabolic Disease as it evolves and incorporates new information,
knowledge, and wisdom.
CharlesR.Scriver,MDCMFRS
AlvaProfessorEmeritusofHumanGenetics.McGillUniversity
References
1. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism
in British Columbia, 1969–1996. Pediatrics 105:1–6
2. Hayes A, Costa T, Scriver CR, Childs B (1985) The effect of Mendelian disease on human
health. II. Response to treatment. Amer J Med Genet 21:243–255
3. Lee PJ (2002) Growing older. The adult metabolic clinic. J Inher Metab Dis 25:252–260
4. Lee PJ (2003) The adult patient with hereditary metabolic disease. In: Scriver CR et al.
(eds) The metabolic and molecular bases of inherited disease (online). McGraw Hill,
New York .( External update in Chap. 5. Treatment of genetic disease)
5. Treacy E, Childs B, Scriver CR (1995) Response to treatment in hereditary metabolic
disease: 1993 survey and ten year comparison. Am J Hum Genet 56:359–367
6. Treacy EP, Valle D, Scriver CR (2001) The treatment of genetic disease. In: Scriver CR
et al. (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw
Hill, New York, pp 175–191

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