Lysosomal Storage Disorders: A Practical Guide
- Author/s: Mehta, Atul; Winchester, Bryan
- Publisher: John Wiley and Sons Ltd
- ISBN: 9780470670873
- Format: Paperback
- Pages: 208 pages
- Publication date: 17 August 2012
- Dimensions: 188mm (Width), 241mm (Height), 11mm (Spine width)
- Weight: 472g
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.
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 Krageloh-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 Oivind 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