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8 Cards in this Set
- Front
- Back
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Fabry disease |
Deficient: alpha-galactosidase A Accumulates: ceramide trihexoside Inheritance: XR S/Sx: CRAN - cardiovascular, renal, angiokeratoma, neuropathy |
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Gaucher |
Deficient: Glucocerebrosidase/beta-glucosidase Accumulates: glucocerebroside Inheritance: AR S/Sx: HSM, pancytopenia, aseptic necrosis of femur, Gaucher cells (tissue paper/lipid-laden macros) |
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Niemann-Pick |
Deficient: Sphingomyelinase Accumulates: sphingomyelin Inheritance: AR S/Sx: progressive neurodegen, HSM, cherry red macula, foam cells |
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Tay-Sachs |
Deficient: Hexosaminidase A Accumulates: GM ganglioside Inheritance: AR S/Sx: progressive neurodegen, developmental delay, cherry red macula, onion skin lysosomes (pert - no hsm) |
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Krabbe
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Deficient: Galactocerebrosidase Accumulates: galactocerebroside, psychosine Inheritance: AR S/Sx: DONG - developmental delay, optic atrophy, neuropathy, globoid cells |
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Metachromatic leukodystrophy |
Deficient: Arylsulfatase A Accumulates: cerebroside sulfate Inheritance: AR S/Sx: DAD - demyelination, ataxia, dementia |
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Hurler |
Deficient: alpha-L-iduronidase Accumulates: heparan sulfate Inheritance: AR S/Sx: Dynamic Giraffes Chew On Muscles - developmental delay, gargoylism, corneal clouding, obstruction of airway |
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Hunter |
Deficient: Iduronate sulfatase Accumulates: heparan sulfate Inheritance: XR S/Sx: developmental delay, gargoylism, obstruction of airway, aggressive behavior, (pert - no corneal clouding) |
