lysosomal storage dz Flashcards
high GM2
tay sachs
high ceramide trihexoside
fabry dz
high glucocerebrosid
gaucher’s dz
high sphingomyelin
niemann pick dz
high galactocerebroside
krabbe dz
high sulfatides
metachromatic leukodystrophy
high heparin sulfate
hurlers syndrome and hunters syndrome
what enzyme is dysfxnal in hurlers syndrome
alpha-L-iduronidase
what enzyme is dysfxnal in hunters syndorme
iduronate sulfatase
what enzyme is dysfxnal in tay sachs
hexosaminidase
what enzyme is dysfxnal in fairy dz
alpha galactosidase
what enzyme is dysfxnal in goucher’s dz
glucocerebrosidase
what enzyme is dysfxnal in nieman pick dz
sphingomyelinase
what enzyme is dysfxnal in krabbe dz
galactocerebrosidase
what enzyme is dysfxnal in metachromatic leukodystrophy
arylsulfatase A
what 2 lysosomal storage dz.’s are x-linked R
hunters and fabrys
what 2 dz.’s have cherry Red spot on macula and how do you differentiate them
tay sachs and niemann pick; niemann pick has hepatosplenomegaly
what is the MC lysosomal storage dz
gaucher’s dz
what dz presents as central and peripheral demyelination w/ ataxia and dementia
metachromatic leukodystrophy
what has crumpled tissue paper lipid laden macrophages
gauchers dz
globoid cells are seen in
krabbbe dz
onion skin lysosomes are seen in
tay sachs
angiokeratomas are seen in
fabry dz
optic atrophy is seen in
krabbe dz
aseptic necrosis of femur is seen in
gauchers
corneal clouding
hurlers syndrome
no corneal clouding but is highly aggressive
hunters
