|Lysosomal storage disease||Clinical features||Enzyme / deficiency||Human enzyme replacement therapy|
|Fabry's disease||Variable age of
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