Lysosomal Storage Disorders

The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance Mehta ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease Pozzilli ISBN 9780470656273

The last two decades have seen a huge expansion in research inthe area of lysosomal storage disorders, which has substantiallyextended our understanding of both the scientific and the clinicalbasis of these diseases. Lysosomal Storage Disorders: APractical Guide is the fruit of an ambitious project aiming toreview both the scientific and the clinical aspects of lysosomalstorage disorders, resulting inthis accessible volume, which gives an up-to-date overview of thesubject.There is substantial scientific interest in these diseases: newadvances in small molecule therapy are likely to be useful in thenear future, and trials are already underway. Lysosomal storagedisorders offer a unique platform for teaching modern clinicalscience, from basic genetics through to clinical applications.The first part of the book reviews and classifies our currentunderstanding of the physiology and pathophysiology of lysosomalstorage disorders. The second part of the book reviews individualdiseases, and gives perspectives from patients and experts lookingtowards future therapeutic directions.Lysosomal Storage Disorders: A Practical Guide is theideal guide for a wide audience including scientists, clinicianshealth care workers and administrators, those working in thepharmaceutical industry, patients and their organisations.Titles of related interestHaematology at a Glance * Mehta * ISBN9781405179706Atlas of Endocrine and Metabolic Disease * Pozzilli * ISBN 9780470656273

List of Contributors, vPreface, viiiForeword, xPart 1 General Aspects of Lysosomal Storage Diseases11 The Lysosomal System: Physiology and Pathology, 3Matthew C. Micsenyi and Steven U. Walkley2 Clinical Aspects and Clinical Diagnosis, 13J. Edmond Wraith and Michael Beck3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20Bryan Winchester4 Genetics of Lysosomal Storage Disorders and Counselling29John J. Hopwood5 Classification of Lysosomal Storage Diseases, 37Bryan WinchesterPart 2 The Individual Diseases, 476 Gaucher Disease, 49Deborah Elstein and Ari Zimran7 Fabry Disease, 58Atul Mehta and Uma Ramaswami8 The Gangliosidoses, 63Joe T.R. Clarke9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy70Volkmar Gieselmann, David A. Wenger and IngeborgKrägeloh-Mann10 Types A and B Niemann-Pick Disease, 80Melissa P. Wasserstein, Robert J. Desnick, and Edward H.Schuchman11 Niemann-Pick Disease Type C, 87Marie T. Vanier and Marc C. Patterson12 The Mucopolysaccharidoses, 94Roberto Giugliani13 Pompe Disease, 101Arnold J.J. Reuser and Ans T. van der Ploeg14 Glycoproteinoses, 107Dag Malm, Hilde Monica F. Riise Stensland and ØivindNilssen15 Defect in Protective Protein/Cathepsin A: Galactosialidosis115Alessandra d'Azzo and Erik J. Bonten16 Multiple Enzyme Deficiencies, 12116.1 Defects in Transport: Mucolipidosis II alpha/betaMucolipidosis III alpha/beta and Mucolipidosis III gamma, 121Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke16.2 Multiple Sulfatase Deficiency, 127Graciana Diez-Roux and Andrea Ballabio17 Lysosomal Membrane Defects, 131Michael Schwake and Paul Saftig18 Neuronal Ceroid Lipofuscinoses, 137Jonathan D. Cooper and Ruth E. Williams19 Other Lysosomal Disorders, 142Bryan Winchester and Timothy M. CoxPart 3 Therapy and Patient Issues, 15120 Current Treatments, 153Timothy M. Cox21 Central Nervous System Aspects, Neurodegeneration and theBlood-Brain Barrier, 166David J. Begley and Maurizio Scarpa22 Emerging Treatments and Future Outcomes, 174T. Andrew Burrow and Gregory A. Grabowski23 Newborn, High Risk and Carrier Screening for LysosomalStorage Disorders, 181Gabor E. Linthorst and Carla E.M. Hollak24 The Patient Perspective on Rare Diseases, 186Alastair Kent, Christine Lavery, and Jeremy ManuelIndex, 193