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10 Cards in this Set
- Front
- Back
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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 |
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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 |
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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 |
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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) |
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Krabbe's Disease (globoid cell leukodystrophy)
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Peripheral neuropathy, developmental delay, optic atrophy
Def: Beta-galactosidase Acc: Galactocerebroside |
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Metachromic leukodystrophy
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Central and peripheral demyelination with ataxia, dementia.
Def: Arylsulfatase A Acc: Cerebroside sulfate AR |
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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 |
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Hunter's Syndrome
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Mild Hurlers + aggressive behavior, no corneal clouding
Def: Iduronate sulfatase Acc: Heparan sulfate, dermatan sulfate XR |
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Farber's syndrome
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Hoarseness, dermatitis, skeletal deformations, mental retardation, hepatomegaly
Def: ceramidase Acc: Ceramide AR |
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Sandhoff's
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more rapid course of Tay-Sach's
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