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 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

1;Lysosomal Storage Disorders: A Practical Guide;31.1;Copyright;41.2;Contents;51.3;List of Contributors;71.4;Preface;101.5;Foreword;121.6;Part 1 General Aspects of Lysosomal Storage Diseases;131.6.1;1 The Lysosomal System: Physiology and Pathology;151.6.1.1;Introduction;151.6.1.2;The greater lysosomal system;151.6.1.3;Lysosomal diseases;181.6.1.4;References;241.6.2;2 Clinical Aspects and Clinical Diagnosis;251.6.2.1;Introduction;251.6.2.2;Clinical presentation;251.6.2.3;References;311.6.3;3 Laboratory Diagnosis of Lysosomal Storage Diseases;321.6.3.1;Referral to specialist laboratory;321.6.3.2;Preliminary screening tests on urine or blood;321.6.3.3;Diagnosis of lysosomal enzyme defects;341.6.3.4;LSDs due to defects in non-enzymatic proteins;371.6.3.5;Neuronal ceroid lipofuscinoses (NCLs);381.6.3.6;Molecular genetic testing;381.6.3.7;Prenatal diagnosis;391.6.3.8;Prospects;391.6.3.9;Acknowledgements;391.6.3.10;References;391.6.4;4 Genetics of Lysosomal Storage Disorders and Counselling;411.6.4.1;Introduction;411.6.4.2;Genes, proteins, stored substrates, clinical phenotypes and diagnosis;411.6.4.3;Incidence and prevalence;451.6.4.4;Populations at a high-risk;461.6.4.5;Burden of illness;461.6.4.6;Population screening and diagnostic methods;461.6.4.7;Counselling issues;471.6.4.8;References;471.6.5;5 Classification of Lysosomal Storage Diseases;491.6.5.1;Basis of classification of lysosomal storage diseases;491.6.5.2;Acknowledgements;491.7;Part 2 The Individual Diseases;591.7.1;6 Gaucher Disease;611.7.1.1;A representative case history;611.7.1.2;Gaucher disease;611.7.1.3;Epidemiology;611.7.1.4;Etiology and pathogenesis:genetic basis;621.7.1.5;Clinical forms;621.7.1.6;Diagnosis;641.7.1.7;Biomarkers;641.7.1.8;Routine follow-up of patients;641.7.1.9;Enzyme replacement therapy (ERT) for Gaucher disease: alglucerase and imiglucerase;661.7.1.10;Dosing regimens;671.7.1.11;Malignancies;671.7.1.12;Global shortage of imiglucerase (June 2009);671.7.1.13;Other treatment options: substrater eduction therapy (SRT);681.7.1.14;Summary;681.7.1.15;References;681.7.2;7 Fabry Disease;701.7.2.1;Epidemiology;701.7.2.2;Genetic basis;701.7.2.3;Pathophysiology;711.7.2.4;Clinical presentation;711.7.2.5;Natural history;721.7.2.6;Laboratory diagnosis;721.7.2.7;Treatment;731.7.2.8;Treatment guidelines;731.7.2.9;Further reading;731.7.3;8 The Gangliosidoses;751.7.3.1;References;801.7.4;9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy;821.7.4.1;MLD and GLD;821.7.4.2;Case studies;821.7.4.3;Epidemiology;841.7.4.4;Genetics;841.7.4.5;Pathophysiology;861.7.4.6;Clinical presentation;871.7.4.7;Diagnosis by MRI;871.7.4.8;Laboratory diagnosis;881.7.4.9;Treatment;891.7.4.10;Natural history studies;901.7.4.11;References;911.7.5;10 Types A and B Niemann-Pick Disease;921.7.5.1;Representative case histories;921.7.5.2;Epidemiology;921.7.5.3;Genetics;931.7.5.4;Pathophysiology;931.7.5.5;Clinical presentation;941.7.5.6;Natural history;951.7.5.7;Laboratory diagnosis;961.7.5.8;Treatment;961.7.5.9;Acknowledgements and conflicts of interest;971.7.5.10;References;971.7.6;11 Niemann-Pick Disease Type C;991.7.6.1;Case histories;991.7.6.2;Epidemiology;1001.7.6.3;Genetic basis;1001.7.6.4;Pathophysiology;1001.7.6.5;Clinical presentation;1011.7.6.6;Natural history;1031.7.6.7;Laboratory diagnosis;1031.7.6.8;Treatment;1041.7.6.9;References;1041.7.7;12 The Mucopolysaccharidoses;1061.7.7.1;Epidemiology;1061.7.7.2;Genetic basis;1061.7.7.3;Pathophysiology;1071.7.7.4;Clinical presentation;1071.7.7.5;Natural history;1081.7.7.6;Laboratory diagnosis;1091.7.7.7;Treatment;1111.7.7.8;Acknowledgements;1121.7.7.9;References;1121.7.8;13 Pompe Disease;1131.7.8.1;Case histories;1131.7.8.2;Confusing nomenclature;1141.7.8.3;Epidemiology;1151.7.8.4;Genetic basis;1151.7.8.5;Pathophysiology;1151.7.8.6;Clinical presentation;1151.7.8.7;Natural history;1161.7.8.8;Enzymatic an