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Glossary of Lysosomal Storage Diseases 2

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Two X linked recessive?
Fabry's disease and Hunter's syndrome.
Two with cherry red spot?
Niemann-Pick disease (50%) and Tay-Sachs (100%).
Deficient enzyme is alpha-galactosidase A?
Fabry's disease (accumulate ceramide trihexoside).
Deficient enzyme is beta-glucocerebrosidase.
Gaucher's disease.
Deficient enzyme is sphingomyelinase.
Niemann-Pick disease (accumulate sphingomyelin).
Deficient enzyme is hexosaminidase A.
Tay-Sachs disease. Accumulate GM2 ganglioside.
Deficient enzyme is Beta-galactosidase.
Krabbe's disease.
Deficient enzyme is Arylsulfatase A.
Metachromatic leukodystrophy.
Deficient enzyme is alpha-L-iduronidase.
Hurler's syndrome Accumulate heparan sulfate and dermatan sulfate.
Deficient enzyme is iduronate sulfatase.
Hunter's syndrome. Accumulate Heparan and dermatan sulfate. Milder form of Hurler's.
Mild Hurler's + aggressive behavior, no corneal clouding.
Hunter's syndrome.
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Hurler's syndrome.
Hepatosplenomegaly (3)
Gaucher's disease, Niemann-Pick, Hurler's syndrome.
Central and peripheral demyelination with ataxia, dementia.
Metachromatic leukodystrophy.
Peripheral neuropathy, developmental delay, optic atrophy.
Krabe's disease.
Progessive neurodegeneration, developmental delay, cherry red spot, lysoszymes with onion skin.
Tay Sachs.
Progressive neurodegeneration, hepatosplnomegaly, cherry red spot.
Niemann Pick.
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells.
Gaucher's disease.
Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.
Fabry's disease.

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