Lysosomal Storage Disorders A Practical Guide

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.

The Editors

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.

List of Contributors

Preface to the First Edition

Preface to the Second Edition

Foreword

1 Lysosomal Storage Disorder: Historic Landmarks and Scientific Principles
Atul Mehta and Bryan Winchester

PART 1: General Aspects of Lysosomal Storage Diseases

2 The Lysosomal System: Physiology
Gennaro Napolitano, Frances M. Platt and Andrea Ballabio

3 The Lysosomal System: Pathology
Matthew Miscenyi and Steven U. Walkley

4 Clinical Aspects and Clinical Diagnosis
Michael Beck

5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills and Simon Heales

6 Newborn screening for Lysosomal Storage Disorders
Roy Peake

7 Genetics of Lysosomal Storage Disorders
Maria Fuller and Jack Goldblatt

8 Classification of Lysosomal Diseases
Bryan Winchester

PART 2: The Individual Diseases

9 Gaucher Disease
Deborah Elstein and Ari Zimran

10 Fabry Disease
Gregory Pastores and Atul Mehta

11 The Gangliosidoses
Michael Beck, Joe TR Clarke and Konrad Sandhoff

12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
Volkmar Gieselmann, David Wenger and Ingeborg Krägeloh-Mann

13 Types A and B Niemann–Pick Disease
Melissa P. Wasserstein, Robert J. Desnick and Edward H. Schuchman

14 Niemann–Pick Disease Type C
Marie T. Vanier, Frances M. Platt, Emily R. Eden and Marc C. Patterson

15 Other Lipidoses

15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
Thierry Levade and Jeffrey A. Medin

15.2 Lysosomal acid lipase deficiency
Manisha Balwani, Donna L. Bernstein and Greg Grabowski

16 The Mucopolysaccharidoses: An Introduction
Roberto Giugliani and Uma Ramaswami

16.1 Mucopolysaccharidosis type I
Anna Tylki-Szymanska

16.2 Mucopolysaccharidosis type II
Barbara Burton

16.3 Mucopolysaccharidosis type III
James Davison

16.4 Mucopolysaccharidosis type IV
Chris Hendrickz and Roberto Guigliani

16.5 Mucopolysaccharidosis type VI
Young Bae Sohn, Paul Harmatz and Torayuki Okuyama

16.6 Mucopolysaccharidosis type VII
Adriana Montano and William S. Sly

16.7 Mucopolysaccharidosis IX
Barbara Triggs-Raine, Promita Ghosh and Marvin Natowicz

17 Pompe Disease
Arnold Reuser, Ans T. van der Ploeg, Priya Kishnani and Pim Pijnappel

18 Glycoproteinoses
Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen

Defect in Protective Protein/Cathepsin A: Galactosialidosis Alessandra d’Azzo, Diantha van de Vlekkert and Ida Annunziata

20 Multiple Enzyme Deficiencies

20.1 Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma
Nicole M. Muschol, Cornelia Rudolph and Thomas Braulke

20.2 Multiple sulphatase deficiency
Nicola Brunetti-Pierri, Graciana Diez-Roux and Andrea Ballabio

21 Lysosomal Membrane Defects
Michael Schwake and Paul Saftig

22 Neuronal Ceroid Lipofuscinoses
Jonathan D. Cooper, Sarah Mole, Angela Schultz and Ruth E. Williams

23 Miscellaneous disorders of the Lysosome: New Pathological Frontiers
Timothy M. Cox and Bryan Winchester

Part 3: Therapy and Patient Issues

24 Current Treatments
Michael Beck

25 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
David J. Begley, Cinzia Bellettato and Maurizio Scarpa

26 Emerging Treatments
Gregory A. Grabowski and Derralynn Hughes

27 Lysosomal Storage Disorders in the Developing World
Chris Hendriks and Atul Mehta

28 The Patient Perspective on Rare Diseases
Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens and George Timmins

Index

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