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26 Cards in this Set

  • Front
  • Back
2 lysosomal storage diseases with X-linked inheritance?
Fabry's

Hunter's
Progressive neurodegeneration, hepatosplenomegaly,
cherry-red spot on macula,
foam cells. Disease?
Niemann-Pick disease
Deficient enzyme in Niemann-Pick disease?
Sphingomyelinase

--> Sphingomyelin builds up
Peripheral neuropathy of hands and feet, angiokeratomas, CV disease. Disease?
Fabry's disease
alpha-galactosidase A is deficient in what disease?
Fabry's disease
Beta-galactocerebrosidase is deficient in what disease?
Krabbe's disease
Arulsulfatase A is deficient in what disease?
Metachromatic leukodystrophy
Hepatosplenomegaly
Aseptic necrosis of femur
Bone crises
Macrophages that look like crumpled paper. Disease?
Gaucher's disease
Characteristics of Krabbe's disease?
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Buildup in Metachromatic leukodystrophy?
Cerebroside sulfate
2 lysosomal storage diseases with hepatosplenomegaly?
Gaucher's

Niemann-Pick
2 lysosomal storage diseases with cherry red spot on macula?
Niemann-Pick

Tay-Sachs
Glucocerebroside vs Galactocerebroside buildup?
Glucocerebrosides in Gaucher's

Galactocerebrosides in Krabbe's
Lysosomal storage disease with central and peripheral demyelination with ataxia, dementia?
Metachromatic leukodystrophy
(Arylsulfatase A deficiency)
Enzyme deficient in Hurler's?
alpha-L-iduronidase
Buildup in Hurler's?
Heparan sulfate, dermatan sulfate
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. Disease?
Hurler's syndrome

(alpha-L-iduronidase deficiency)
Hurler's vs Hunter's?
Hunter's is a mild Hurler's (develop delay, gargoyl, airway obstruction, HSM)

+ aggressive behavior
minus corneal clouding
Enzyme deficient in Metachromatic leukodystrophy vs Hunter's?
Metachromatic leukodystrophy: Arylsulfatase A

Hunter's: Iduronate sulfatase
Buildup of Heparan and Dermatan sulfate?
Hurler's or Hunter's
Ceramide trihexoside builds up in what?
Fabry's
Angiokeratomas --> disease, enzyme, and buildup?
Fabry's

Alpha-galactosidase A

Ceramide trihexoside
Lysosomes with onion skin appearance?
Tay Sachs
(Hexosaminidase A deficiency)
Enzyme deficient in Hunter's?
Iduronate sulfatase
Globoid cells, developmental delay, peripheral neuropathy and optic atrophy. Disease?
Krabbe's disease
Cerebroside sulfate builds up in what?
Metachromatic leukodystrophy