Lysosomal Storage Diseases
Terms
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- Fabry's Disease
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Peripheral neuropathy of hands/feet, angiokeratomas, telangiectasias, CV/renal disease
Def: alpha-galactosidaase A
Acc: Ceramide trihexoside
XR - Gaucher's disease
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Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages), neurologic deficits and mental retardation
Def: beta-glucocerbrosidase
Acc: Glucocerebroside
AR - Niemann-Pick Disease
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Progressive neurodegeneration, hepatosplenomegaly, cherry red spot, mental retardation, foam cells in bone marrow, death by age 3.
Def: Sphingomyelinase
Acc: Sphingomyelin
AR - Tay-Sachs Disease
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Progressive neurodegeneration and weakness, developmental delay, cherry red spot, blindness, lysozymes with onion skin. Death by age 3.
Def: Hexoasaminidase
Acc: GM2 ganglioside
AR (Ashkenazi Jews) - Krabbe's Disease (globoid cell leukodystrophy)
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Peripheral neuropathy, developmental delay, optic atrophy
Def: Beta-galactosidase
Acc: Galactocerebroside - Metachromic leukodystrophy
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Central and peripheral demyelination with ataxia, dementia.
Def: Arylsulfatase A
Acc: Cerebroside sulfate
AR - Hurler's Syndrome
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Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Def: alpha-L-iduronidase
Acc: Heparan sulfate, dermatan sulfate
AR - Hunter's Syndrome
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Mild Hurlers + aggressive behavior, no corneal clouding
Def: Iduronate sulfatase
Acc: Heparan sulfate, dermatan sulfate
XR - Farber's syndrome
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Hoarseness, dermatitis, skeletal deformations, mental retardation, hepatomegaly
Def: ceramidase
Acc: Ceramide
AR - Sandhoff's
- more rapid course of Tay-Sach's