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24 Cards in this Set
- Front
- Back
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Peripheral neuropathy of hands and feet, angiokeratomas, cardiovascular/ renal disease
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FABRY'S
- Alpha-galactosidase A - ceramide trihexoside |
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hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that looked like crumpled tissue paper
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GAUCHER'S
- beta glucocerebrosidase - glucocerebroside |
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progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foamy histiocytes in liver, spleen and skin
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NIEMANN-PICK
- Sphingomyelinase - sphingomyelin |
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progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly
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TAY-SACHS
- hexosaminidase A - GM2 ganglioside |
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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KRABBE'S
- galactocerebrosidase - galactocerebroside |
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central and peripheral demyelination with ataxia, dementia
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METACHROMATIC LEUKODYSTROPHY
- arylsulfatase A - cerebroside sulfate |
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developmental delay, gargoylism, airway obstruction, corneal clouding
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HURLER'S
- alpha-iduronidase - heparan sulfate, dermatan sulfate |
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mild developmental delay, mild gargoylism, mild airway obstruction, aggressive behavior
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HUNTER'S
- iduronate sulfatase - heparan sulfate, dermatan sulfate |
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Which lysosomal storage disorder and mucopolysaccharidosis are X-linked recessive?
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Fabry's, Hunter's
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Deficiency of alpha galactosidase A
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Fabry's
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Accumulation of ceramide trihexoside
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Fabry's
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Deficiency of beta glucocerebroside
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Gaucher's
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Accumulation of glucocerebroside
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Gaucher's
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Deficiency of sphingomyelinase
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Niemann-Pick
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Accumulation of sphingomyelin
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Niemann-Pick
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Deficiency of Hexosaminidase A
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Tay-Sachs
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Accumulation of GM2 ganglioside
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Tay-Sachs
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Deficiency of galactocerebrosidase
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Krabbe's
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Accumulation of galactocerebroside
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Krabbe's
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Deficiency of arylsulfatase A
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metachromatic leukodystrophy
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Accumulation of cerebroside sulfate
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metachromatic leukodystrophy
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Deficiency of alpha-L-iduronidase
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Hurler's syndrome
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Deficiency of iduronate sulfatase
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Hunter's syndrome
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Accumulation of heparan sulfate and dermatan sulfate
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Hurler's and Hunter's
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