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Clinical features of Lysosomal Storage Diseases

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

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