Table 5.1 Classification of lysosomal storage diseases.

In June 1994, a 20-year-old woman was seen in our clinic with complaints of overt and progressive increase in abdominal girth as well as unremitting fatigue. She had been diagnosed…

Cases study A A 4 year-old male child was diagnosed with Mucopolysaccharidosis I, Hurler type (MPS-1 H). At the time of diagnosis psychomotor retardation was already present, which deteriorated while…

A case report The following is one of the few clinical cases of early infantile galactosialidosis reported in the literature. A girl was the third child of healthy unrelated parents….

Figure 14.2 A lymphocyte with vacuolated lysosomes from a patient with α-mannosidosis (a), compared to a lymphocyte from a normal control (b). Reproduced from Malm and Nilssen [2] with permission…

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 –…

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…

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…

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 –…