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