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30 Cards in this Set
- Front
- Back
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What lysosomal storage dz has renal failure?
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Fabry
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What lysosomal dz has optic atrophy, spasticity and early death?
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Krabbe
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Lysosomal Dz that is compatible with a normal life usually?
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Gaucher's Dz
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Lysosomal Dz w/ increase in sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells?
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Niemann-Pick Dz
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What lysosomal Dz has cherry-red spot on macula?
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Tay-Sachs Dz
Take them in the Sack (the cherries) |
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What lysosomal Dz has accumulation of sulfatide in brain, kidney, liver and peripheral nerves?
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Metachromatic Leukodystrophy
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What enzyme is deficient in Fabry's Dz?
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alfa-galactosidase
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What accumulates in Fabry's Dz?
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ceramide trihexoside
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What mode of inheritane is Fabry's Dz?
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X-linked
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What enzyme is deficient in Krabbe's?
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beta-galactosidase
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What accumulates in Krabbe?
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beta-galactocerebroside
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What enzyme is deficient in Krabbe?
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beta-galatosidase
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What enzyme is deficient in Gaucher's Dz?
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beta-Glucocerebrosidase
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What accumulates in Gaucher's?
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glucocerebroside
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What enzyme is deficient in Niemann-Pick?
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Sphyngomyelinase
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What accumulates in Neimann-Pick's?
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sphingomyelin and cholesterol
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What enzyme is deficient in Tay-Sachs?
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Hexosaminidase A
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WHat accumulates in Tay-Sach's Dz?
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GM2 ganglioside
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What enzyme is deficient in Metachromatic Leukodystrophy?
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ArylSulfatase A
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What accumulates in Metachromatic Leukodystrophy?
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Sulfatide
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What enzyme is deficient in Hurler's Sx?
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alpha-L-iduronidase
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What accumulates in Hurler's Sx?
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Increase in dermatan sulfate
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What enzyme is deficient in Hunter's?
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iduronate sulfatase
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What accumulates in Hunter's?
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Heparan Sulfate
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What are the two Lysosomal Storage Dz that are X-linked?
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Fabry's X and Hunter's X
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What lysosomal Dz has corneal clouding and mental retardation?
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Hurler's Sx
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What lysosomal Dz has mild mental retardation?
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Hunter's Sx
the hunter needs to see what he is shooting, So NO corneal clouding... |
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What lysosomal Dz has gargoyle facies?
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Hurler's Dz
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What lysosomal dz has flaring of the distal femur? (Like Erlehnmeyer Flask)
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Gaucher's Dz
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What two lysosomal Dz are associated with Jews?
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Tay-Sach's and Gaucher's Dz
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