Term
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Definition
Sx: peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
Deficient enzyme: alpha-galactosidase A
Accumulated substrate: ceramide trihexoside
Inheritance XR |
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Term
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Definition
Sx: hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells
Deficient enzyme: beta-glucocerebrosidase
Accumulated substrate: glucocerebroside
Inheritance: AR |
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Term
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Definition
Sx: progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula
Deficient enzyme: sphingomyelinase
Accumulated substrate: sphingomyelin
Inheritance: AR |
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Term
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Definition
Sx: progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
Deficient enzyme: hexosaminidase A
Accumulated substrate: GM2 ganglioside
Inheritance: AR |
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Term
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Definition
Sx: peripheral neuropathy, developmental delay, optic atrophy
Deficient enzyme: beta-glactosidase
Accumulated substrate: glactocerebroside
Inheritance: AR |
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Term
| Metachromatic leukodystrophy |
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Definition
Sx: central and peripheral demyelination with ataxia, dementia
Deficient enzyme: arylsulfatase A
Accumulated substrate: cerebroside sulfate
Inheritance: AR |
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Term
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Definition
Sx: developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Deficient enzyme: alpha-L-iduronidase
Accumulated substrate: heparan sulfate, dermatan sulfate
Inheritance: AR |
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Term
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Definition
Sx: mild Hurler's + aggressive behavior, no corneal clouding
Deficient enzyme: iduronate sulfatase
Accumulated substrate: heparan sulfate, dermatan sulfate
Inheritance: XR |
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