Diseases | Finding | Deficient Enzyme/ Accumulated substrate |
SPHINGOLIPIDOSES | ||
Fabry’s diseases (XR) | Peripheral neuropathy of hand/feet, angiokeratomas, cardiovascular/renal diseases | α-galactosidase A Ceramide trihexoside |
Gaucher’s disease (most common) (AR) | Hepasplenomegaly, aseptic necrosis of femur, bone crises,. (crumpled tissue paper) | β-glucocerebrosidase/ Glucocerebroside |
Niemann Pick disease (AR) | Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells | Sphingomyelinase/ Sphingomyelin |
Tay-Sachs disease (AR) | Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosome with onion skin | Hexosaminidase A/ GM2 ganglioside |
Krabbe’s disease (AR) | Peripheral neuropathy, developmental delay, optic atrophy, globoid cells | Galactocerebrosidase / Galactocerebroside |
Metachromatic leukodystrophy (AR) | Central and peripheral demyelination with ataxia, dementia | Arylsulfatase A/ Cerebroside sulfate |
MUCOPOLYSACCHARIDOSES | ||
Hurler’s diseases (AR) | Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly | α-L-idorunidase/ Heparan sulfate Dermatan sulfate |
Hunter’s diseases (XR) | Mild Hurler + aggressive behavior, no corneal clouding | Iduronate sulfatase/ Heparan sulfate Dermatan sulfate |
Wednesday, June 22, 2011
LYSOSOMAL STORAGE DISEASES
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