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Lysosomal storage
Lysosomal storage disease
Question | Answer | description | substrate accumulated |
---|---|---|---|
fabry's | alpha galactosidase a | (peripheral neurophathy of hands/feet, angiokeratomas, cardiovascular/renal disease) | ceramide trihexoside |
goucher's | b clucocerebrosidase ) | (hsm, aseptic necrosis of femur, bone crisis, gaucher's cells | glucocerebroside |
niemannpick | sphingomyelinase | (progressive neurodegeneration, hsm, cherry red spot on macula | sphingomyelin |
tay sachs disease | hexosaminidase a | (progressive neurodegeneration, developmental delay, cherry red spot, lysozomes with onion skin) | gm2 ganglioside |
krabbe's | bgalactosidase | (peripheral neuropathy, dev't delay, optic atrophy) | galactocerebroside |
metachromatic leukodystrophy | arylsulfatase a ( | central and peripheral demyelination with ataxia, dementia | cerebroside sulfate |
hurler's | alpha l iduronidase | (dev't delay, gargoylism, airway obstrxn, corneal clouding, hsm) | heparan sulfate, dermatan sulfate |
hunter's | iduronate sulfatase ) | (mild hurler's + aggressive behavior, no corneal clouding | heparan sulfate, dermatan sulfate |