The EditorsAtul 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, viiiForeword, xiiiPreface to the First Edition, xivPreface to the Second Edition, xviPart 1 General Aspects of Lysosomal Storage Diseases, 11 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3Atul Mehta and Bryan Winchester2 The Lysosomal System: Physiology, 9Gennaro Napolitano, Frances M. Platt, and Andrea Ballabio3 The Lysosomal System: Pathology, 19Matthew C. Micsenyi and Steven U. Walkley4 Clinical Aspects and Clinical Diagnosis, 31Michael Beck5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales6 Newborn Screening for Lysosomal Storage Diseases, 51Roy W.A. Peake7 Genetics of Lysosomal Storage Diseases, 59Maria Fuller and Jack Goldblatt8 Classification of Lysosomal Diseases, 68Bryan WinchesterPart 2 The Individual Diseases, 859 Gaucher Disease, 87Deborah Elstein and Ari Zimran10 Fabry Disease, 98Gregory M. Pastores and Atul Mehta11 The Gangliosidoses, 104Michael Beck, Joe T.R. Clarke, and Konrad Sandhoff12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann13 Types A and B Niemann-Pick Disease, 126Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman14 Niemann-Pick Disease Type C, 134Marie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson15 Other Lipidoses, 14415.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144Thierry Levade and Jeffrey A. Medin15.2 Lysosomal Acid Lipase Deficiency, 148Donna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski16 The Mucopolysaccharidoses, 15516.1 An Introduction, 156Roberto Giugliani and Uma Ramaswami16.2 Mucopolysaccharidosis Type I (MPS I), 165Anna Tylki-Szymanska16.3 Mucopolysaccharidosis Type II (MPS II), 169Barbara K. Burton16.4 Mucopolysaccharidosis Type III (MPS III), 172James Davison16.5 Mucopolysaccharidosis Type IV (MPS IV), 176'Chris Hendriksz and Roberto Giugliani16.6 Mucopolysaccharidosis Type VI (MPS VI), 179Young Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama16.7 Mucopolysaccharidosis Type VII (MPS VII), 184'Adriana M. Montano and William S. Sly16.8 Mucopolysaccharidosis Type IX (MPS IX), 191Barbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz17 Pompe Disease, 194Arnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel18 Glycoproteinoses, 203Dag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen19 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 211Alessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata20 Multiple Enzyme Deficiencies, 22120.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 221Nicole M. Muschol, Cornelia Rudolph, and Thomas Braulke20.2 Multiple Sulfatase Deficiency, 226Nicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio21 Lysosomal Membrane Defects, 232Michael Schwake and Paul Saftig22 Neuronal Ceroid Lipofuscinoses, 241Jonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247Timothy M. Cox and Bryan WinchesterPart 3 Therapy and Patient Issues, 26524 Current Treatment, 267Michael Beck25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272David J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa26 Emerging Therapies, 287Gregory A. Grabowski and Derralynn Hughes27 Lysosomal Storage Diseases in the Developing World, 295Chris Hendriksz and Atul Mehta28 The Patient Perspective on Rare Diseases, 299Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George TimminsIndex, 308

The EditorsAtul 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, viiiForeword, xiiiPreface to the First Edition, xivPreface to the Second Edition, xviPart 1 General Aspects of Lysosomal Storage Diseases, 11 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3Atul Mehta and Bryan Winchester2 The Lysosomal System: Physiology, 9Gennaro Napolitano, Frances M. Platt, and Andrea Ballabio3 The Lysosomal System: Pathology, 19Matthew C. Micsenyi and Steven U. Walkley4 Clinical Aspects and Clinical Diagnosis, 31Michael Beck5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales6 Newborn Screening for Lysosomal Storage Diseases, 51Roy W.A. Peake7 Genetics of Lysosomal Storage Diseases, 59Maria Fuller and Jack Goldblatt8 Classification of Lysosomal Diseases, 68Bryan WinchesterPart 2 The Individual Diseases, 859 Gaucher Disease, 87Deborah Elstein and Ari Zimran10 Fabry Disease, 98Gregory M. Pastores and Atul Mehta11 The Gangliosidoses, 104Michael Beck, Joe T.R. Clarke, and Konrad Sandhoff12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann13 Types A and B Niemann-Pick Disease, 126Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman14 Niemann-Pick Disease Type C, 134Marie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson15 Other Lipidoses, 14415.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144Thierry Levade and Jeffrey A. Medin15.2 Lysosomal Acid Lipase Deficiency, 148Donna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski16 The Mucopolysaccharidoses, 15516.1 An Introduction, 156Roberto Giugliani and Uma Ramaswami16.2 Mucopolysaccharidosis Type I (MPS I), 165Anna Tylki-Szymanska16.3 Mucopolysaccharidosis Type II (MPS II), 169Barbara K. Burton16.4 Mucopolysaccharidosis Type III (MPS III), 172James Davison16.5 Mucopolysaccharidosis Type IV (MPS IV), 176'Chris Hendriksz and Roberto Giugliani16.6 Mucopolysaccharidosis Type VI (MPS VI), 179Young Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama16.7 Mucopolysaccharidosis Type VII (MPS VII), 184'Adriana M. Montano and William S. Sly16.8 Mucopolysaccharidosis Type IX (MPS IX), 191Barbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz17 Pompe Disease, 194Arnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel18 Glycoproteinoses, 203Dag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen19 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 211Alessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata20 Multiple Enzyme Deficiencies, 22120.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 221Nicole M. Muschol, Cornelia Rudolph, and Thomas Braulke20.2 Multiple Sulfatase Deficiency, 226Nicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio21 Lysosomal Membrane Defects, 232Michael Schwake and Paul Saftig22 Neuronal Ceroid Lipofuscinoses, 241Jonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247Timothy M. Cox and Bryan WinchesterPart 3 Therapy and Patient Issues, 26524 Current Treatment, 267Michael Beck25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272David J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa26 Emerging Therapies, 287Gregory A. Grabowski and Derralynn Hughes27 Lysosomal Storage Diseases in the Developing World, 295Chris Hendriksz and Atul Mehta28 The Patient Perspective on Rare Diseases, 299Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George TimminsIndex, 308

The EditorsAtul 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, viiiForeword, xiiiPreface to the First Edition, xivPreface to the Second Edition, xviPart 1 General Aspects of Lysosomal Storage Diseases, 11 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3Atul Mehta and Bryan Winchester2 The Lysosomal System: Physiology, 9Gennaro Napolitano, Frances M. Platt, and Andrea Ballabio3 The Lysosomal System: Pathology, 19Matthew C. Micsenyi and Steven U. Walkley4 Clinical Aspects and Clinical Diagnosis, 31Michael Beck5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales6 Newborn Screening for Lysosomal Storage Diseases, 51Roy W.A. Peake7 Genetics of Lysosomal Storage Diseases, 59Maria Fuller and Jack Goldblatt8 Classification of Lysosomal Diseases, 68Bryan WinchesterPart 2 The Individual Diseases, 859 Gaucher Disease, 87Deborah Elstein and Ari Zimran10 Fabry Disease, 98Gregory M. Pastores and Atul Mehta11 The Gangliosidoses, 104Michael Beck, Joe T.R. Clarke, and Konrad Sandhoff12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann13 Types A and B Niemann-Pick Disease, 126Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman14 Niemann-Pick Disease Type C, 134Marie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson15 Other Lipidoses, 14415.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144Thierry Levade and Jeffrey A. Medin15.2 Lysosomal Acid Lipase Deficiency, 148Donna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski16 The Mucopolysaccharidoses, 15516.1 An Introduction, 156Roberto Giugliani and Uma Ramaswami16.2 Mucopolysaccharidosis Type I (MPS I), 165Anna Tylki-Szymanska16.3 Mucopolysaccharidosis Type II (MPS II), 169Barbara K. Burton16.4 Mucopolysaccharidosis Type III (MPS III), 172James Davison16.5 Mucopolysaccharidosis Type IV (MPS IV), 176'Chris Hendriksz and Roberto Giugliani16.6 Mucopolysaccharidosis Type VI (MPS VI), 179Young Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama16.7 Mucopolysaccharidosis Type VII (MPS VII), 184'Adriana M. Montano and William S. Sly16.8 Mucopolysaccharidosis Type IX (MPS IX), 191Barbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz17 Pompe Disease, 194Arnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel18 Glycoproteinoses, 203Dag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen19 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 211Alessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata20 Multiple Enzyme Deficiencies, 22120.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 221Nicole M. Muschol, Cornelia Rudolph, and Thomas Braulke20.2 Multiple Sulfatase Deficiency, 226Nicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio21 Lysosomal Membrane Defects, 232Michael Schwake and Paul Saftig22 Neuronal Ceroid Lipofuscinoses, 241Jonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247Timothy M. Cox and Bryan WinchesterPart 3 Therapy and Patient Issues, 26524 Current Treatment, 267Michael Beck25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272David J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa26 Emerging Therapies, 287Gregory A. Grabowski and Derralynn Hughes27 Lysosomal Storage Diseases in the Developing World, 295Chris Hendriksz and Atul Mehta28 The Patient Perspective on Rare Diseases, 299Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George TimminsIndex, 308