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Lysosomal Storage Disorders: A Practical Guide, 2nd Edition

ISBN: 9781119697282
ISBN: 9781119697282
Διαστάσεις 25 × 18 cm



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Lysosomal Storage DisordersEnables 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.


Atul B. Mehta is Emeritus Professor at University College London. He trained in Medicine at Cambridge University and King’s College London; completed his doctorate at Imperial College London and works as a haematologist and physician in London. He was the Founder and Director of the Lysosomal Storage Disorders Centre at the Royal Free, which grew to be the largest centre in the UK and is one of the foremost clinical academic centres for LSDs in the world. His goal has always been to provide patient-centred care as part of a coordinated team of professionals. He now works in private practice, charitable, educational and research roles, including consultancy.

Bryan Winchester is Emeritus Professor of Biochemistry at the UCL Great Ormond Street Institute of Child Health, University College London. After studying Chemistry at Cambridge University, he obtained a Ph.D. in Biochemistry at University College London. He taught Biochemistry and carried out research on lysosomal storage diseases at London University for over 40 years. From 1988–2006, he worked closely with the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital and was chairman of the European Study Group on Lysosomal Diseases from 1997–2007. On retirement he became a Trustee of the British MPS Society.



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