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25 Cards in this Set
- Front
- Back
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What disease is deficient in a-galactosidase A?
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Fabry's disease
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What are the findings in Fabry's disease?
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Peripheral neuropathy of hands/feet, angiokeratomas, cardiovscularized/renal disease
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What is the accumulated substrate in Fabry's disease?
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Ceramide trihexoside
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What are the physical findings when a-galactosidase A is deficient?
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Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
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What are Guacher's cells?
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macrophages that lok like crumpled up paper that are found in Gaucher's disease
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What are the clinical findings of Gaucher's disaese?
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Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells
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What is the deficient enzyme in Gaucher's disease?
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B-glucocerebrosidase
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What disease is deficient in B-glucocerebrosidease?
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Gaucher's disease
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What is the accumulated substrate in Gaucher's disease?
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Glucocerebroside
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What are the clinical findings in Niemann-Pick disease?
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Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
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What is the deficient enzyme in Niemann-Pick disease?
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Sphingomyelinase
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What is the accumulated substrate in Niemann-Pick disease?
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Sphingomyelin
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What disease is deficient in sphingomyelinase?
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Niemann-Pick disease
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What disease is deficient in hexosaminidase A?
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Tay-Sachs disease
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What are the physical findings in Tay-Sachs disease?
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Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin
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What is the deficient enzyme in Tay-Sachs disease?
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Hexosaminidase A
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What is the accumulated substrate in Tay-Sachs disease?
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GM2 ganglioside
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What disease accumulates GM2 ganglioside in its lysosomes?
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Tay-Sachs disease
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What disease is deficient in galactocerebrosidase?
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Krabbe's disease
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What disease accumulates galactocerebroside in its lysosomes?
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Krabbe's disease
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What are the clinical findings in Krabbe's disease?
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Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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What is the lysosomal storage disease where the physical findings are peripheral neuropathy, developmental delay, optic atrophy, and globoid cells?
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Krabbe's disease
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What lysosomal storage disease lacks Arylsulfatase A?
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Metachromic leukodystrophy
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What are the physical findings in metachromic leukodystrophy?
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Central and peripheral demyelination with ataxia, dementia
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What is the accumulated substrate in metachromic leukodystrophy?
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Cerebroside sulfate
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