| Lysosomal storage disease | Clinical features | Enzyme / deficiency | Human enzyme replacement therapy |
| Fabry's disease | Variable age of
onset. Neurological (pain in extremities). Dermatological (hypohidrosis, angiokeratomas) Cerebrovascular (renal, cardiac, CNS) |
α-galactosidase A | In clinical practice |
| Gaucher's disease (various types) | Splenic and liver
enlargement, with variable severity of disease. Some types also have neurological involvement |
Glucocerebrosidase | In clinical practice for some types |
| Mucopolysaccharidosis (MPS) (various types, including Hurler's, Hunter's, Sanfilippo's, Morquio's syndromes) | Vary with syndrome. Can cause mental retardation, skeletal and joint abnormalities, abnormal facies, obstructive respiratory diseases and recurrrent respiratory infections | Each MPS type has a different enzyme deficiency | In clinical practice for some types, clinical trials underway for other types |
| Niemann-Pick disease | Most common presentation
is as a progressive neurological disorder, accompanied by organomegaly. Some variants do not have neurological symptoms |
Acid sphingomyelinase | Clinical trials planned for some Types |
| GM2-gangliosidosis (various types, including Tay-Sachs, Sandhoff's diseases) | Severe progressive neurological disorder. Sandhoff's disease also characterised by organomegaly | Hexosaminidase A, B |
Davidson's Principles and Practice of Medicine 20th Edition (Churchill Livingstone) 2007