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8 Cards in this Set

  • Front
  • Back
Fabry's disease
- peripheral neuropathy of hands/feet, angiokeratomas, CV and renal disease
- alpha-galactosidase A deficiency leads to ceramide trihexoside accumulation
- X-linked recessive
Gaucher's disease
- hepatosplenomegaly, asceptic necrosis of femur, bone crises, Gaucher's cells (macrophages)
- beta-glucocerebrosidase deficiency
- accumulation of glucocerebroside
- autosomal recessive
Niemann-Pick disease
- progressive neurodegeneration, hepatosplenomegaly, cherry-red spot (on macula)
- sphingomyelinase deficiency
- sphingomyelin accumulation
- autosomal recessive
Tay-Sachs disease
- progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
- hexosaminidase A deficiency
- GM2 ganglioside accumulation
- autosomal recessive
Krabbe's disease
- peripheral neuropathy, developmental delay, optic atrophy
- beta-galactosidase deficiency
- galactocerebroside accumulation
- autosomal recessive
Metachromatic leukodystrophy
- central and peripheral demyelination with ataxia and dementia
- arylsulfatase A deficiency
- cerebroside sulfate accumulation
- autosomal recessive
Hurler's syndrome
- developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
- alpha-L-iduronidase deficiency
- heparan sulfate, dermatan sulfate accumulations
- autosomal recessive
Hunter's syndrome
- mild Hurler's, plus aggressive behaviour, no corneal clouding
- iduronate sulfatase deficiency
- heparan sulfate, dermatan sulfate accumulation
- X-linked recessive