Lysosomal Storage Disorders

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 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