Lysosomal Storage Disorders: A Practical Guide

• Publisher: Wiley-Blackwell
• Year: 2012
• Tongue: English
• Leaves: 203
• Category: Library

✦ Synopsis

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.

 

Content:
Chapter 1 The Lysosomal System (pages 1–12): Matthew C. Micsenyi and Steven U. Walkley
Chapter 2 Clinical Aspects and Clinical Diagnosis (pages 13–19): J. Edmond Wraith and Michael Beck
Chapter 3 Laboratory Diagnosis of Lysosomal Storage Diseases (pages 20–28): Bryan Winchester
Chapter 4 Genetics of Lysosomal Storage Disorders and Counselling (pages 29–36): John J. Hopwood
Chapter 5 Classification of Lysosomal Storage Diseases (pages 37–46): Bryan Winchester
Chapter 6 Gaucher Disease (pages 47–57): Deborah Elstein and Ari Zimran
Chapter 7 Fabry Disease (pages 58–62): Atul Mehta and Uma Ramaswami
Chapter 8 The Gangliosidoses (pages 63–69): Joe T.R. Clarke
Chapter 9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy (pages 70–79): Volkmar Gieselmann, David A. Wenger and Ingeborg Krageloh?Mann
Chapter 10 Types A and B Niemann–Pick Disease (pages 80–86): Melissa P. Wasserstein, Robert J. Desnick and Edward H. Schuchman
Chapter 11 Niemann–Pick Disease Type C (pages 87–93): Marie T. Vanier and Marc C. Patterson
Chapter 12 The Mucopolysaccharidoses (pages 94–100): Roberto Giugliani
Chapter 13 Pompe Disease (pages 101–106): Arnold J.J. Reuser and Ans T. van der Ploeg
Chapter 14 Glycoproteinoses (pages 107–114): Dag Malm, Hilde Monica F. Riise Stensland and Oivind Nilssen
Chapter 15 Defect in Protective Protein/Cathepsin A (pages 115–120): Alessandra d'Azzo and Erik J. Bonten
Chapter 16 Multiple Enzyme Deficiencies (pages 121–130):
Chapter 17 Lysosomal Membrane Defects (pages 131–136): Michael Schwake and Paul Saftig
Chapter 18 Neuronal Ceroid Lipofuscinoses (pages 137–141): Jonathan D. Cooper and Ruth E. Williams
Chapter 19 Other Lysosomal Disorders (pages 142–149): Bryan Winchester and Timothy M. Cox
Chapter 20 Current Treatments (pages 151–165): Timothy M. Cox
Chapter 21 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier (pages 166–173): David J. Begley and Maurizio Scarpa
Chapter 22 Emerging Treatments and Future Outcomes (pages 174–180): T. Andrew Burrow and Gregory A. Grabowski
Chapter 23 Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders (pages 181–185): Gabor E. Linthorst and Carla E.M. Hollak
Chapter 24 The Patient Perspective on Rare Diseases (pages 186–192): Alastair Kent, Christine Lavery and Jeremy Manuel