Fabry Disease
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubula
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Deborah Elstein · Gheona Altarescu · Michael Beck Editors
Fabry Disease
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Editors Deborah Elstein Gaucher Clinic Shaare Zedek Medical Center Bayit Street 12 91034 Jerusalem Israel [email protected]
Gheona Altarescu Genetics Unit Shaare Zedek Medical Center Bayit Street 12 91031 Jerusalem Israel [email protected]
Michael Beck Children’s Hospital University of Mainz Langenbeckstrasse 1 55131 Mainz Germany [email protected]
ISBN 978-90-481-9032-4 e-ISBN 978-90-481-9033-1 DOI 10.1007/978-90-481-9033-1 Springer Dordrecht Heidelberg London New York Library of Congress Control Number: 2010930427 © Springer Science+Business Media B.V. 2010 No part of this work may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording or otherwise, without written permission from the Publisher, with the exception of any material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
There is no medicine like hope, no incentive so great, and no tonic so powerful as expectation of something better tomorrow. (Orison Swett Marden)
This is the first textbook dedicated solely to Fabry disease. Fabry disease unfortunately is a multi-system disease that is incompletely treated by the currently available enzyme replacement therapies. The often significant lag in achieving the correct diagnosis, the myriad of symptoms and signs, the suffering that the patient experiences on so very many levels, and the social ramifications for family and friends, all underscore the complexity of this disease and the inherent need for a better understanding of the pathological mechanisms underlying its expression. The section on pre-clinical studies highlights the various directions that have been undertaken to improve diagnosis and identification of disease-specific features. The clinical chapters represent the most current evaluations by experts that should allow the uninitiated as well as the treating physician to appreciate the spectrum of disease-specific manifestations. And finally, the chapters assessing the various aspects of treatment are of importance for physician and patient alike. We have had the good fortune to include chapters by many of the most prominent clinicians and researchers in the field, men and women who have been involved with Fabry disease for many decades and whose dedication has been unstinting. It is to the patients and those concerned with their welfare that this book is dedicated in the hope that the near future will provide insight into the disease and thereby improved treatment of its symptoms.
Contents
Part I
Pre-clinical
1 Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation . . . . . . . . . . . . . . . . . . . Andreas Gal
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2 The Structure of Human α-Galactosidase A and Implications for Fabry Disease . . . . . .
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