Lysosomal Storage Disorders (eBook)

Edited by Atul Mehta, Professor of Haematology, University College London, Royal Free Hospital, London, UK Bryan Winchester, Emeritus Professor of Biochemistry, UCL Institute of Child Health at Great Ormond Street Hospital, University College London, London, UK

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