LSDs Flashcards
(25 cards)
tay sachs
hexosaminidase A deficiency
GM2 accumulation
gaucher
glucocerebrosidase deficiency
glucocerebroside accumulation
krabbe
galactocerebrosidase deficiency
galactocerebroside accumulation
fabry
a-galactosidase A deficiency
ceramide trihexoside accumulation
metachromatic leukodystrophy
arylsulfatase A deficiency
cerebroside sulfate accumulation
niemann-pick
sphingomyelinase deficiency
sphingomyelin accumulation
tay sachs presentation
hyperreflexia (startled response)
+cognitive deficits
(normal until around 3-6 months)
cherry red macula found in what diseases?
tay sach
niemann-pick
“onion skin appearance” on lysosomes
tay sachs
niemann-pick presentation
hepatosplenomegaly
lipid-laden macrophages (foam cells)
+ cognitive deficits
metachromatic leukodystophy presentation
peripheral neuropathy
seizures
ataxia
gaucher presentation
osteoporosis
avascular necrosis
pancytopenia
hepatosplenomegaly
“crumpled tissue paper” appearance
gaucher
globoid cells are associated with what
krabbe
krabbe presentation
blindness
+ hypotonia/hyperreflexia
LSD with bimodal age distribution
gaucher
gaucher increases risk for which disease
parkinsons
fabry inheritance
XLR
early fabry presentation
paresthesias
telangiectasia
cataracts
hyperhydrosis
late fabry presentation
renal disease
CVD
hurler
alpha-L-idorunidase deficiency
hurler presentation
course facial features
communicating hydrocephalus
hepatosplenomegaly
hernias
CORNEAL CLOUDING
DYSOSTOSIS MULTIPLEX
hunter
idorunidate-2-sulfatase deficiency
hunter presentation
milder hurler presentation
aggressive behavior
NO corneal clouding
