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25 Cards in this Set

  • Front
  • Back
the only 2 X-linked recessive lysosomal storage disease
Fabry's & Hunters
how are most lysosomal storage diseases inherited (all but Fabry's and Hunter)
AR
disease with ceramide trihexoside accumulation
Fabry's
enzyme deficiency in Fabry's
alpha-galactosidase
angiokeratomas, cardiac and renal involvement, painful neuropathy
Fabry's
disease with glucocerebrosides accumulation
Gaucher's
enzyme deficiency in Gaucher's
beta-gluco- cerebrosidase
enzyme deficiency in Krabbe's
Galacto-cerebrosidase
macrophages that look like crumpled tissue paper, hepatosplenomegaly, pancytopenia, severe bone and join pain
Gaucher's
progressive neurodegeneration, optic atrophy
Krabbe's
disease with Cerebroside sulfate accumulation
Metachromatic leukodystrophy
enzyme deficiency in metachromatic leukodystrophy
arylsulfatase A
Muscle wasting, dementia, ataxia
metachromatic leukodystrophy
disease with sphingomyelin accumulation
Niemann-Pick
enzyme deficiency in Niemann-Pick
sphingomyelinase
hepatosplenomegaly, cherry red macula, foam cells, progressive neurodegeneration
Niemann-Pick
disease with GM2 ganglioside accumulation
Tay-Sachs
enzyme deficiency in Tay-Sachs
beta hexosaminidase A
cherry-red spot in macula, progressive neurodegeneration, no hepatosplenomegaly, Ashkenazi jews
Tay-Sachs
disease with galactocerebroside accumulation
Krabbe's
Disease with dermatan and heparan sulfate accumilation
hurler and hunters syndrome
enzyme deficiency in hurlers syndrome
alpha L iduronidase
enzyme deficiency in hunters
Iduronate sulfatase
gargoylism, corneal clouding, hepatosplenomegaly, developmental delay
Hurler syndrome
gargoylism, hepatospenomegaly, developmental delay (Similar to hurlers but no corneal clouding)
Hunter syndrome