lysosomal storage disease Flashcards
most common lysosomal storage disease
gaucher
which lysosomal storage disease have XR inheritance?
fabry disease; hunter syndrome
most of the lysosomal storage diseases are what type of inheritance?
AR
does hunters or hurlers present with corneal clouding
hurler syndrome
peripheral neuropathy, angiokeratomas, CV/renal disease, deficiency in alpha-galactosidase A; accumulation in ceramide trihexoside
fabry disease
accumulation of glucocerebroside results from ____, accumulation of galactocerebroside results from_____
Gaucher; Krabbe
which one can be treated with recombinant glucocerebrosidase?
gaucher
hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, deficiency of glucocerebrosidase & accumulation of glucocerebroside
gaucher
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells, deficiency in sphingomyelinase, accumulated sphingomyelin
Niemann-Pick disease
which 2 diseases present with progressive neurodegeneration & cherry red spot on macula?
- niemann-pick
2. tay-sachs
although they both present with progressive neurodeg, ____presents with foam cells and HSM, whereas ____presents with lysosomes with onion skin & NO HSM
Niemann pick disease; tay-sachs disease
____results in accumulation of GM2 ganglioside, with deficiency in hexoaminidase A
tay-sachs
peripheral neuropathy, developmental delay, optc atrophy, globoid cells, deficiency in galactocerbrosidase A
krabbe disease
central & peripheral neuropathy with ataxia, dementia, deficiency in arylsulfatase A, cerebroside sulfate
metachromatic leukodystrophy
____is deficiency in alpha-L-iduronidase, and ___is deficiency in iduronate sulfatase
hurler syndrome; hunter syndrome
