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30 Cards in this Set

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  • Back
Deficiency in alpha-galactosidase A
Fabry Disease
Fabry Disease enzyme deficiency
alpha-galactosidase A
only lysosomal storage disease that is XR
Fabry Disease
Disease with accumulated substrate ceramide trihexoside
Fabry Disease
angiokeratomas, peripheral neuropathy with pain in hands and feet, renal disease
Fabry disease
enzyme deficiency in Gaucher's disease
beta-glucocerebrosidase
beta-glucocerebrosidase deficiency
Gaucher's disease
Disease with accumulation of Glucocerebroside
Gaucher's disease
Lysosomal storage disease that effects mainly just the liver
Gaucher's disease
Enzyme defiency in Niemann-Pick Disease
Sphingomyelinase
Disease with sphingomyelinase deficiency
Niemann-Pick disease
Disease with accumulation of sphingomyelin
Niemann-Pick disease
Tay Sachs disease
enzyme deficiency
Hexosaminidase A
Tay Sach's disease
accumulation
GM2 ganglioside
progressive neurodegeneration, cherry-red spot, lysozymes with onion skin, death in two years
Tay Sachs disease
Disease with beta-galactosidase deficiency
Krabbe disease
Krabbe disease
enzyme deficiency
beta-galactosidase
Krabbe disease
accumulation
galactocerebroside
Metachromatic Leukodystrophy
enzyme defiency
arylsulfatase A
Disease with defiency in arylsulfatase A
MCL
MCL
accumulation
cerebroside sulfate
ataxia, dementia, siezures, central and peripheral demyelination
Metachromatic leukodystrophy
Hunter's Syndrome
enzyme deficiency
iduronate sulfatase
Disease with defiency in iduronate sulfatase
Hunter's syndrome
Hunter's syndrome
accumulation
heparan sulfate, dermatan sulfate
Hunters or Hurlers - which one is XR?
Hunters
Hunters vs. Hurlers
less agressive?
Hunters
Disease with defiency in alpha-L-iduronidase?
Hurlers
gargoylism, corneal clouding, developmental delay, upper airway obstruction, hearing loss, MR, death early
Hurler Syndrome
mild hurler's plus aggressive behavior
Hunters