neurocutaneous disorders Flashcards
fabry’s deficient enzyme
a-galactosidase A
gaucher’s deficient enzyme
glucocrebrosidase
niemann pick enzyme
sphingomyelinase
tay sachs deficient enzyme
hexosaminidase A
krabbe’s deficient enzyme
galactocerebrosidase
metachromatic leukodystrophy enzyme
arylsulfatase A
hurler’s enzyme
a-L iduronidase
hunter’s enzyme
iduronate sulfatase
fabry’s substrate
ceramide
trihexoside
gaucher’s substrate
glucocerebroside
tay sachs substrate
GM2 ganglioside
Krabbe’s substrate
galactocerebroside
metachromatic leukodystrophy substrate
cerebroside sulfate
hurler’s substrate
heparan sulfate
dermatan sulfate
hunter’s substrate
heparan sulfate dermatan sulfate
X linked recessive
Fabry’s
hunter’s
cherry red spot with no hepatosplenomegaly
tay sachs
cherry red macula with hepatosplenomegaly
niemann Pck
foam cells
neimann pick
macrophages that look like crumpled tissue paper
Gaucher’s
onion skin lysosomes
tay sachs
globoid cells
krabbe’s
hurler’s presentation
gargoylism
airway obstruction
corneal clouding
hunter’s presentation
hurler’s with NO corneal clouding
fabry’s presentation
peripheral neuropathy
angiokeratomas
CV/Renal dz
gaucher’s disease presentation
aseptic necrosis of femur
bone crisis
hepatosplenomegaly
Nieman pick presentation
neurodegeneration
hepatosplenomegally
cherry red macula
Tay sachs presentation
neurodegeneration
developmental delay
cherry red macula
NO hepatomegaly
krabbe presentation
peripheral neuropathy
developmental delay
optic atrophy
