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Lysosomal Storage Disorders: A Practical Guide

Atul Mehta (Editor), Bryan Winchester (Editor)
ISBN: 978-0-470-67087-3
208 pages
January 2013, Wiley-Blackwell
Lysosomal Storage Disorders: A Practical Guide (0470670878) cover image

Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced.

These diseases present to a very wide range of physicians and paediatricians. Gaucher disease may present to orthopaedic surgeons or haematologists with splenomegaly and/or skeletal disease. However, paediatricians see the childhood variants of Gaucher disease and therefore may present it to neurologists. Fabry disease typically does not present in childhood but presents to adult physicians with end organ damage (renal failrure, cardiac disease, stroke, neuropathy, gastrointestinal symptoms). A text book would draw these divergent strands together.

There is substantial scientific interest in these diseases. Gaucher is well recognised as a paradigm of a molecular illness, understood at a basic level which is treatable now with specific therapy and is likely to be treatable with gene therapy within the coming five years. New advances in small molecule therapy – e.g. chaperone treatment, modified antibiotics affecting ribosomal function – are likely to be useful for these diseases in the near future. Trials are already underway. These diseases therefore offer a fabulous platform for teaching modern clinical science from basic genetics right the way through to clinical applications.

 

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List of Contributors, v

Preface, viii

Foreword, x

Part 1 General Aspects of Lysosomal Storage Diseases, 1

1 The Lysosomal System: Physiology and Pathology, 3
Matthew C. Micsenyi and Steven U. Walkley

2 Clinical Aspects and Clinical Diagnosis, 13
J. Edmond Wraith and Michael Beck

3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20
Bryan Winchester

4 Genetics of Lysosomal Storage Disorders and Counselling, 29
John J. Hopwood

5 Classification of Lysosomal Storage Diseases, 37
Bryan Winchester

Part 2 The Individual Diseases, 47

6 Gaucher Disease, 49
Deborah Elstein and Ari Zimran

7 Fabry Disease, 58
Atul Mehta and Uma Ramaswami

8 The Gangliosidoses, 63
Joe T.R. Clarke

9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 70
Volkmar Gieselmann, David A. Wenger and Ingeborg Krägeloh-Mann

10 Types A and B Niemann–Pick Disease, 80
Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman

11 Niemann–Pick Disease Type C, 87
Marie T. Vanier and Marc C. Patterson

12 The Mucopolysaccharidoses, 94
Roberto Giugliani

13 Pompe Disease, 101
Arnold J.J. Reuser and Ans T. van der Ploeg

14 Glycoproteinoses, 107
Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen

15 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 115
Alessandra d’Azzo and Erik J. Bonten

16 Multiple Enzyme Deficiencies, 121

16.1 Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 121
Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke

16.2 Multiple Sulfatase Deficiency, 127
Graciana Diez-Roux and Andrea Ballabio

17 Lysosomal Membrane Defects, 131
Michael Schwake and Paul Saftig

18 Neuronal Ceroid Lipofuscinoses, 137
Jonathan D. Cooper and Ruth E. Williams

19 Other Lysosomal Disorders, 142
Bryan Winchester and Timothy M. Cox

Part 3 Therapy and Patient Issues, 151

20 Current Treatments, 153
Timothy M. Cox

21 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier, 166
David J. Begley and Maurizio Scarpa

22 Emerging Treatments and Future Outcomes, 174
T. Andrew Burrow and Gregory A. Grabowski

23 Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders, 181
Gabor E. Linthorst and Carla E.M. Hollak

24 The Patient Perspective on Rare Diseases, 186
Alastair Kent, Christine Lavery, and Jeremy Manuel

Index, 193

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