Mucopolysaccharidoses Update (2 Volume Set)

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Series: Metabolic Diseases – Laboratory and Clinical Research
BISAC: MED027000

Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.

Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.

Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient’s daily life.

For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.

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Table of Contents

Table of Contents

Volume I

Preface
(Shunji Tomatsu, MD, PhD, Christine Lavery, MBE, Roberto Giugliani, MD, PhD, Paul Harmatz, MD, Maurizio Scarpa, MD, PhD, Grzegorz Węgrzyn, PhD and Tadao Orii, MD)

Abbreviations and Acronyms

Summary of Mucopolysaccharidoses

Clinical Pictures at a Glance
(Tadao Orii, MD, Saori C. Tomatsu, Honoka Fujitsuka, Editors)

Diagnosis at a Glance
(Tadao Orii, MD, Nivethitha Arunkumar, Shunji Tomatsu, MD, PhD, Editors)

Therapy at a Glance
(Shunji Tomatsu, MD, PhD, Hui-hsuan Chen, Takeyuki Akiyama, Virginia Tsai, Editors)

Chapter 1. Introduction: The History of Research for Mucopolysaccharidoses
(Shunji Tomatsu, MD, PhD, Christine Lavery, MBE, Roberto Giugliani, MD, PhD, Paul Harmatz, MD, Maurizio Scarpa, MD, PhD Grzegorz Węgrzyn, PhD and Tadao Orii, MD)

Chapter 2. An Overview of Mucopolysaccharidoses: Diagnosis, Natural History, and Clinical Pictures
(Roberto Giugliani, MD, PhD, Shunji Tomatsu, MD, PhD, Christine Lavery, MBE,
Paul Harmatz MD, Maurizio Scarpa, MD, PhD, Grzegorz Węgrzyn, PhD
and Tadao Orii, MD)

Chapter 3. Epidemiology of Mucopolysaccharidoses
(Shaukat A. Khan, PhD, Tadao Orii, MD, Roberto Giugliani, MD, PhD
and Shunji Tomatsu, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 4. Diagnosis of Mucopolysaccharidoses: When Should We Suspect Mucopolysaccharidosis, Based Only on an Interview and Clinical Examination?
(Anna Tylki-Szymańska MD, PhD, Department of Pediatrics, Nutrition and Metabolic Disease The Children’s Memorial Health Institute, Warsaw, Poland)

Chapter 5. Pathogenesis of Mucopolysaccharidoses: Dysfunction of Lysosomes
(Giancarlo Parenti, MD and Alessandro Fraldi, PhD, Department of Translational Medical Sciences, Federico II University, Naples, Italy, and others)

Chapter 6. Inflammation and Its Role in the Lysosomal Storage Disorders
(Calogera M. Simonaro, PhD, Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY, US)

Chapter 7. Mechanisms of Neurodegeneration in Mucopolysaccharidoses
(Grzegorz Wegrzyn, PhD, DSc, Joanna Jakobkiewicz-Banecka, PhD, DSc, Magdalena Gabig-Ciminska, PhD, DSc, Anna Kloska, PhD, Marcelina Malinowska, PhD, Marta Moskot, PhD, Ewa Piotrowska, PhD, Magdalena Narajczyk, PhD, DSc, Zyta Banecka-Majkutewicz, MD, PhD, Bogdan Banecki, PhD, DSc, Alicja Wegrzyn, PhD, DSc, and Karolina Pierzynowska, MSc, Department of Molecular Biology, University of Gdansk, Wita Stwosza, Gdansk, Poland, and others)

Chapter 8. Glycosaminoglycans: Biosynthesis, Degradation, and Related Lysosomal Storage Disorders
(Cinzia Maria Bellettato PhD, Rosella Tomanin PhD, Laura Rigon PhD, Alessandra Zanetti PhD, Nicola Volpi M.Sc. and Maurizio Scarpa MD, PhD, Brains for Brain Foundation, Padova, Italy, and others)

Chapter 9. Mucopolysaccharidosis Type I: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(M. Verónica Muñoz-Rojas, MD, PhD, Shaukat A. Khan, PhD and Roberto Giugliani, MD, PhD, Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil, and others)

Chapter 10. Mucopolysaccharidosis Type II: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Shunji Tomatsu, MD, PhD, Francyne Kubaski, PhD, Molly Stapleton, BA, Yasuyuki Suzuki, MD, PhD, Kenji O. Orii, MD, PhD, Filippo Vairo, MD, PhD, Ana Carolina Brusius-Facchin, PhD, Sandra Leistner-Segal, PhD, Maira Graeff Burin, PhD, Carolina Fischinger Moura de Souza, MD, PhD and Roberto Giugliani, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 11. Mucopolysaccharidosis Type III: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Grzegorz Wegrzyn, PhD, DSc, Karolina Pierzynowska, MSc, Joanna Jakobkiewicz-Banecka, PhD, DSc, Magdalena Gabig-Ciminska, PhD, DSc, Anna Kloska, PhD, Marcelina Malinowska, PhD, Ewa Piotrowska, PhD, Jolanta Wierzba, MD, PhD, DSc, Magdalena Narajczyk, PhD, DSc, Zyta Banecka-Majkutewicz, MD, PhD, Bogdan Banecki, PhD, DSc, and Alicja Wegrzyn, PhD, DSc, Department of Molecular Biology, and Department of Medical Biology and Genetics, University of Gdansk, Wita Stwosza, Gdansk, Poland, and others)

Chapter 12. Mucopolysaccharidosis Type IVA: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Kazuki Sawamoto, PhD, Carlos J. Alméciga-Díaz, PhD, William Mackenzie, MD,
Robert W. Mason, PhD, Tadao Orii, MD and Shunji Tomatsu, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 13. Mucopolysaccharidosis Type IVB: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Katsumi Higaki, PhD and Haruaki Ninomiya, MD, PhD, Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan, and others)

Chapter 14. Mucopolysaccharidosis Type VI: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Paul Harmatz, MD, Department of Gastroenterology, UCSF Benioff Children’s Hospital Oakland, Oakland, CA, US)

Chapter 15. Mucopolysaccharidosis Type VII: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Kenji E. Orii, MD, PhD, Yasuyuki Suzuki, MD, PhD , Toshiyuki Fukao, MD, PhD,
Tadao Orii, MD, Shunji Tomatsu, MD, PhD and William S. Sly, MD,
Division of Neonatal Intensive Care Unit, Gifu University Hospital, Gifu, Japan, and others)

Chapter 16. Mucopolysaccharidosis Type IX: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Francyne Kubaski, PhD and Shunji Tomatsu, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 17. Mucolipidoses: Clinical Features, Biochemistry, Diagnosis, Genetics, and Treatment
(Takanobu Otomo, MD, PhD, Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan, and others)

Chapter 18. Mucopolysaccharidosis-Plus Syndrome: A New Type of Mucopolysaccharidosis with Severe Systemic Symptoms
(Hidehito Kondo, MD, PhD, and Takanobu Otomo, MD, PhD, Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan, and others)

Chapter 19. Clinical Endpoints
(Michael Beck, MD, Institute of Human Genetics, University of Mainz, Mainz, Germany)

Volume II

Chapter 20. Biomarkers for Mucopolysaccharidoses
(Francyne Kubaski, PhD, Robert W. Mason, PhD, Tadao Orii, MD and Shunji Tomatsu, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 21. Assessment of Brain Function and Structure in Mucopolysaccharidoses
(Elsa G. Shapiro, PhD, Julie Eisengart, PhD, Kathleen Delaney, BA and Igor Nestrasil, MD, PhD, Department of Pediatrics, University of Minnesota, Minneapolis, MN, and others)

Chapter 22. Bone Mineral Density in MPS
(Francyne Kubaski, PhD and Heidi H. Kecskemethy, MS Ed, RDN, Medical Genetic Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil, and others)

Chapter 23. Therapies for Mucopolysaccharidoses: An Overview
(Carlos J. Alméciga-Diaz, PhD, Johana Guevara, PhD, Angela J. Espejo, PhD, Alexander Rodriguez, Olga Echeverri, PhD, and Luis A. Barrera, PhD, Institute for the study of Inborn Errors of Metabolism, Pontificia Universidad Javeriana, Bogotá, Colombia, and others)

Chapter 24. Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses: The Effects and Limitations
(Marta Serafini, PhD, Jaap Jan Boelens, MD, PhD and Hiromasa Yabe, MD, PhD, Centro Ricerca M. Tettamanti, Department of Pediatrics, University of Milano-Bicocca, San Gerardo Hospital/Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy, and others)

Chapter 25. Enzyme Replacement Therapy for Mucopolysaccharidoses: The Effects and Limitations
(Carlos J. Alméciga-Diaz, PhD and Luis A. Barrera, PhD, Institute for the Study of Inborn Errors of Metabolism, Pontificia Universidad Javeriana, Bogotá, Colombia, and others)

Chapter 26. Gene Therapy for Treatment of Mucopolysaccharidoses: The Effects and Limitations
(Haiyan Fu, PhD and Douglas M. McCarty, PhD, Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, Columbus, OH, US, and others)

Chapter 27. Orthopedic Surgical Interventions in the Mucopolysaccharidoses
(Klane K. White, MD, MSc, Department of Orthopedic Surgery and Sports Medicine, Seattle Children’s Hospital University of Washington, Seattle, WA, US)

Chapter 28. Management of Tracheal Obstruction in MPS
(Jennifer Sumner, BS, Shunji Tomatsu, MD, PhD, Molly Stapleton, BA, Ryan R. Davies, MD and Christian Pizarro, MD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US)

Chapter 29. Corneal Transplantation
(Susanne Pitz, MD and Ulrike Hampel, MD, Ophthalmic Clinic, Bürgerhospital Nibelungenallee, Frankfurt, Germany, and others)

Chapter 30. Perioperative Airway Management of MPS Patients
(Mary Theroux, MD and Lauren W. Averill, MD, Department of Anesthesiology and Perioperative Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 31. Newborn Screening for MPS Diseases by Direct Assay of Enzymes in Dried Blood Spots by Tandem Mass Spectrometry
(Michael H. Gelb, PhD, Arun Babu Kumar, PhD, Fan Yi, PhD, Yang Liu, BS, Naveen Chennamanen, PhD, Sophia Masi, PhD, Susan Elliot, BS, Frantisek Turecek, PhD and C. Ronald Scott, MD, Departments of Chemistry, University of Washington, Seattle, WA, US, and others)

Chapter 32. Newborn Screening of Mucopolysaccharidoses: Comparison of the Fluorometric Technique and Tandem Mass Spectrometry for Enzyme Assay
(Chih-Kuang Chuang, PhD, Hsuan-Chieh Liao, PhD, Hsiang-Yu Lin, MD, PhD, Chuan-Chi Chiang, PhD, and Shuan-Pei Lin, MD, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan, and others)

Chapter 33. Newborn Screening and Biomarkers for Mucopolysaccharidoses by GAG Assay
(Francyne Kubaski, PhD, Harumi Osago, PharmB, Robert W. Mason, PhD, Seiji Yamaguchi, MD, PhD, Hironori Kobayashi, MD, PhD, Mikako Tsuchiya, MD, PhD, Tadao Orii, MD and Shunji Tomatsu, MD, PhD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, US, and others)

Chapter 34. Depolymerisation of GAGs by Methanolysis and Analysis by Tandem Mass Spectrometry
(Pamela Lavoie, MSc and Christiane Auray-Blais, LL.M., PhD, Division of Medical Genetics, Department of Pediatrics, CIUSSS de l’Estrie-CHUS, Hospital Fleurimont, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada)

Chapter 35. A List of Animal Models with Mucopolysaccharidoses
(Margret L. Casal, Dr med vet, PhD, Mark E. Haskins, VMD, PhD, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, US)

Chapter 36. Guidelines for Management and Treatment
(Hiroo Hoshina, MD, PhD, Molly Stapleton, BA and Hiroyuki Ida, MD, PhD, Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan, and others)

Chapter 37. Hurdles in Access to High-Priced Orphan Drugs
(Yvonne Schuller MD, Marieke Biegstraaten, MD, PhD and Carla E. M. Hollak, MD, PhD, Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands)

Chapter 38. MPS Societies and Activities
(Christine Lavery, MBE and Terri L. Klein, BS, Group Chief Executive, Society for Mucopolysaccharide Diseases, Amersham Bucks, UK, and others)

Epilogue (Grzegorz Wegrzyn, PhD, Editors)

Essays or Poem “Living with MPS.” (Individual MPS Patient and Family)

About the Authors

About the Editors

Index

Reviews

“As the CEO Of the MPS Society in the UK I can say that this publication is a significant milestone in the campaign for awareness of MPS conditions. As a MPS dad it is wonderful to have literature that can be a source of accurate knowledge that can be relied upon.” <B>- Bob Stevens, Group Chief Executive, Society for Mucopolysaccharide Diseases, MPS Commercial, Buckinghamshire, UK</B>

“This comprehensive book presents a substantial body of international wisdom on mucopolysaccharide diseases. It is notable for the inclusion of the opinions of clinicians, scientists, caregivers and charities working in the sector. This is recommended reading for anyone interested in lysosomal disease pathology and treatment, with an emphasis on the mucopolysaccharidoses.” <B>- Brian Bigger, Chairman, European Study Group on Lysosomal Diseases, Professor of Cell and Gene Therapy, Stem Cell & Neurotherapies, Division of Cell Matrix Biology and Regenerative Medicine, Manchestee, UK</B>

“I would like to recommend this book to not only specialists of mucopolysaccharidoses but general physicians taking care of patients with mucopolysaccharidoses.” <B>- Hiroyuki Ida,M.D.,Ph.D., President of JSIMD (Japanese Society for Inherited Metabolic Diseases)</B>

Keywords: Mucopolysaccharidoses, Update, Diagnosis, Therapy, MPS Society

Audience: It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.

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