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10 Cards in this Set

  • Front
  • Back
Fabry's Disease
Peripheral neuropathy of hands/feet, angiokeratomas, telangiectasias, CV/renal disease
Def: alpha-galactosidaase A
Acc: Ceramide trihexoside
XR
Gaucher's disease
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages), neurologic deficits and mental retardation
Def: beta-glucocerbrosidase
Acc: Glucocerebroside
AR
Niemann-Pick Disease
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot, mental retardation, foam cells in bone marrow, death by age 3.
Def: Sphingomyelinase
Acc: Sphingomyelin
AR
Tay-Sachs Disease
Progressive neurodegeneration and weakness, developmental delay, cherry red spot, blindness, lysozymes with onion skin. Death by age 3.
Def: Hexoasaminidase
Acc: GM2 ganglioside
AR (Ashkenazi Jews)
Krabbe's Disease (globoid cell leukodystrophy)
Peripheral neuropathy, developmental delay, optic atrophy
Def: Beta-galactosidase
Acc: Galactocerebroside
Metachromic leukodystrophy
Central and peripheral demyelination with ataxia, dementia.
Def: Arylsulfatase A
Acc: Cerebroside sulfate
AR
Hurler's Syndrome
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Def: alpha-L-iduronidase
Acc: Heparan sulfate, dermatan sulfate
AR
Hunter's Syndrome
Mild Hurlers + aggressive behavior, no corneal clouding
Def: Iduronate sulfatase
Acc: Heparan sulfate, dermatan sulfate
XR
Farber's syndrome
Hoarseness, dermatitis, skeletal deformations, mental retardation, hepatomegaly
Def: ceramidase
Acc: Ceramide
AR
Sandhoff's
more rapid course of Tay-Sach's