19: Other Lysosomal Disorders
2 Professor of Medicine, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK Introduction This chapter includes sections on two typical storage disorders that have not been covered in other chapters –…
7: Fabry Disease
2The Willink Biochemical Genetics Unit, Genetic Medicine, St Mary’s Hospital, Manchester, UK Fabry disease (Online Mendelian Inheritance in Man #301500) is a rare X-linked metabolic disorder caused by the partial…
8: The Gangliosidoses
GM1-gangliosidosis (OMIM #230500) The first cousin Brazilian parents of a 7-month-old infant boy reported that he had not made any developmental progress since 3-4 months of age, no longer fixed…
11: Niemann–Pick Disease Type C
2 Department of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA Niemann–Pick disease type C [NPC] (Online Mendelian Inheritance in Man (OMIM)# 257220 – NPC1, OMIM# 607625 –…
2: Clinical Aspects and Clinical Diagnosis
2 Children’s Hospital, University of Mainz, Mainz, Germany Introduction For clinicians managing patients with lysosomal storage disease (LSD), the early years of the 21st century have been characterized by the…
13: Pompe Disease
Case history 1 A full-term female was born after an uneventful pregnancy. She had an abnormally high respiratory rate of 100 per minute during the first day. Her liver was…
18: Neuronal Ceroid Lipofuscinoses
2 Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Batten disease or Neuronal Ceroid Lipofuscinosis (NCLs) is the collective name for a…
