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lysosomal storage diseases

which LSD is a/w renal failure? fabry
what are the only 2 x-linked LSDs? Fabry and Hunter
what is the mode of inheritance for the LSDs besides Fabry and Hunter? autosomal recessive
what's the most common LSD gauchers
which LSDs are a/w an early death (by age 3) Tay-sach, Niemann Pick, Krabbe's
which LSD is a demyelinating disease? Metachromatic leukodystrophy
which MPSs are a/w MR? Hurler's and Hunter's
which MPSs are a/w corneal clouding Hurlers, scheie's, I-cell
alpha L iduronidase Hurler's, Scheis
iduronate sulfatase hunters
arylsulfatase A metachromatic leukodystrophy
alpa galactosidase A fabrys
galactocerebrosidase (causing galactocerebroside accumulation) Krabbe
beta gluco cerebrosidase (causing glucocerebroside accumulation) Gauchers
Hexosaminidase Tay Sachs
spingomyelinase (causing spingomyeline accumulation Niemann Pick
characterized by an accumulation of GM2 ganglioside Tay Sachs
characterized by an accumulation of dermatan sulfate Hurlers, Hunters, Scheie
common among ashkenazi jews Tay Sachs, Niemann Pick, Gauchers
crinkled paper cytoplasm Gauchers
cherry red spot on the macula Tay Sachs, Niemann Pick, central retinal a occlusion
Created by: kayjames



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