Lysosomal Storage Disorders

Lysosomal Storage Disorders Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders In the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include: The general aspects of LSDs, with special attention paid to physiology and pathology Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism The existing and emerging treatments for LSDs Key patient issues such as availability and disease awareness, including in the Third World. For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.

Contributors, viii Foreword, xiii Preface to the First Edition, xiv Preface to the Second Edition, xvi Part 1 General Aspects of Lysosomal Storage Diseases, 1 1 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3 Atul Mehta and Bryan Winchester 2 The Lysosomal System: Physiology, 9 Gennaro Napolitano, Frances M. Platt, and Andrea Ballabio 3 The Lysosomal System: Pathology, 19 Matthew C. Micsenyi and Steven U. Walkley 4 Clinical Aspects and Clinical Diagnosis, 31 Michael Beck 5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38 Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales 6 Newborn Screening for Lysosomal Storage Diseases, 51 Roy W.A. Peake 7 Genetics of Lysosomal Storage Diseases, 59 Maria Fuller and Jack Goldblatt 8 Classification of Lysosomal Diseases, 68 Bryan Winchester Part 2 The Individual Diseases, 85 9 Gaucher Disease, 87 Deborah Elstein and Ari Zimran 10 Fabry Disease, 98 Gregory M. Pastores and Atul Mehta 11 The Gangliosidoses, 104 Michael Beck, Joe T.R. Clarke, and Konrad Sandhoff 12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114 Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann 13 Types A and B Niemann-Pick Disease, 126 Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman 14 Niemann-Pick Disease Type C, 134 Marie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson 15 Other Lipidoses, 144 15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144 Thierry Levade and Jeffrey A. Medin 15.2 Lysosomal Acid Lipase Deficiency, 148 Donna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski 16 The Mucopolysaccharidoses, 155 16.1 An Introduction, 156 Roberto Giugliani and Uma Ramaswami 16.2 Mucopolysaccharidosis Type I (MPS I), 165 Anna Tylki-Szymanska 16.3 Mucopolysaccharidosis Type II (MPS II), 169 Barbara K. Burton 16.4 Mucopolysaccharidosis Type III (MPS III), 172 James Davison 16.5 Mucopolysaccharidosis Type IV (MPS IV), 176' Chris Hendriksz and Roberto Giugliani 16.6 Mucopolysaccharidosis Type VI (MPS VI), 179 Young Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama 16.7 Mucopolysaccharidosis Type VII (MPS VII), 184 'Adriana M. Montano and William S. Sly 16.8 Mucopolysaccharidosis Type IX (MPS IX), 191 Barbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz 17 Pompe Disease, 194 Arnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel 18 Glycoproteinoses, 203 Dag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen 19 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 211 Alessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata 20 Multiple Enzyme Deficiencies, 221 20.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 221 Nicole M. Muschol, Cornelia Rudolph, and Thomas Braulke 20.2 Multiple Sulfatase Deficiency, 226 Nicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio 21 Lysosomal Membrane Defects, 232 Michael Schwake and Paul Saftig 22 Neuronal Ceroid Lipofuscinoses, 241 Jonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams 23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247 Timothy M. Cox and Bryan Winchester Part 3 Therapy and Patient Issues, 265 24 Current Treatment, 267 Michael Beck 25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272 David J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa 26 Emerging Therapies, 287 Gregory A. Grabowski and Derralynn Hughes 27 Lysosomal Storage Diseases in the Developing World, 295 Chris Hendriksz and Atul Mehta 28 The Patient Perspective on Rare Diseases, 299 Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George Timmins Index, 308