lysosomal storage diseases Flashcards
Fabry’s disease findings
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
Fabry’s disease deficient enzyme
alpha-galactosidase A
Fabry’s disease accumulated substrate
ceramide trihexoside
Fabry’s disease inheritance
x-linked recessive
Gaucher’s disease findings
hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper)
Gaucher’s disease deficient enzyme
glucocerebrosidase
Gaucher’s disease accumulated substrate
glucocerebroside
Niemann-Pick disease
progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
Nemann-Pick deficienct enzyme
sphingomyelinase
Niemann-Pick accumulated substrate
sphingomyelin
Tay-Sachs disease findings
macrocephaly, progressive neurogegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly
due to frameshift mutation
Tay-Sachs deficient enzyme
hexosaminidase A
Tay-Sachs accumulated substrate
GM2 ganglioside
Krabbe’s disease findings
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe’s disease deficient enzyme
galactocerebrosidase
Krabbe’s disease accumulated substrate
galactocerebroside
metachromatic leukodystrophy findings
central and peripheral demyelination with ataxia, dementia
metachromatic leukodystrophy deficienct enzyme
arylsulfatase A
metachromatic leukodystrophy accumulated substrate
cerebroside sulfate
Hurler’s syndrome findings
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler’s syndrome mutated enzyme
alpha-L-iduronidase
Hurler’s syndrome accumulated substrate
heparan sulfate, dermatan sulfate
Hunter’s syndrome findings
mild Hurler’s + aggressive behavior, no corneal clouding
Hunter’ syndrome deficient enzyme
iduronate sulfatase
Hunter’s syndrome accumulated substrate
heparan sulfate, dermatan sulfate
Hunter’s syndrome inheritance
x-linked recessive
Farber disease findings
ceramide accumulation within neurons and granulomas in skin
Farber disease deficient enzyme
ceramidase
increased incidence in Ashkenazi jews
Tay-Sacks, Niemann-Picks, some forms of Gaucher’s
