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.

List of contents

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

About the author

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.

Summary

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.

Product details

• Authors: a Mehta, Ab Mehta, Atul B Mehta, Atul B. Mehta, Atul B. (Royal Free Hospital Mehta, Bryan Winchester
• Assisted by: Atul B Mehta (Editor), Atul B. Mehta (Editor), Mehta Atul B. (Editor), Winchester (Editor), Bryan Winchester (Editor), Winchester Bryan (Editor)
• Publisher: Wiley, John and Sons Ltd
• Languages: English
• Product format: Hardback
• Released: 31.08.2022
• EAN: 9781119697282
• ISBN: 978-1-119-69728-2
• No. of pages: 336
• Subjects: Guides > Health; Natural sciences, medicine, IT, technology > Medicine; Hämatologie, Medizin, Stoffwechselkrankheiten, Hematology, Medical Genetics, Medical Science, Medizinische Genetik, metabolic disease, Lysosomale Speicherkrankheiten (LSK)