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21 Cards in this Set

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lysosomal storage diseases:

major types (2)
sphingoliposes

mucopolysaccharidoses
most common lysosomal storage disease
Gaucher's disease
sphingoliposes (6)
Fabry's
Gaucher's
Niemann-Pick
Tay-Sachs
Krabbe's
Metachromatic leukodystrophy
only sphingoliposis with XLR MOI
Fabry's disease

(all other sphingoliposes are AR)
spingoliposis:

peripheral neuropathy of hands and feet
angiokeratomas
cardiovascular disease
renal disease
Fabry's disease
Fabry's disease:

deficient enzyme
accumulated substrate
α-galactosidase A

ceramide trihexoside
sphingoliposis:

hepatosplenomegaly
aseptic necrosis of the femur
bone crises
macrophages
Gaucher's disease
Gaucher's disease:

deficient enzyme
accumulated substrate
β-glucocerebrosidase

glucocerebroside
sphingoliposis:

progressive neurodegeneration
hepatosplenomegaly
cherry-red spot on the macula
Niemann-Pick disease
Niemann-Pick disease:

deficient enzyme
accumulated substrate
sphingomyelinase

sphingomyelin

(no man picks his nose with his sphinger)
spingolyposis:

progressive neurodegeneration
developmental delay
cherry-red spot on the macula
lysozymes with onion skin
Tay-Sachs disease
Tay-Sachs disease:

deficient enzyme
accumulated substrate
hexosaminidase A

GM2 ganglioside

(Tay-SaX lacks heXosaminidase A)
sphingoliposis:

peripheral neuropathy
developmental delay
optic atrophy
Krabbe's disease
Krabbe's disease:

deficient enzyme
accumulated substrate
β-galactosidase

galactocerebroside
sphingoliposis:

central and peripheral demyelination
ataxia
dementia
metachromatic leukodystrophy
metachromatic leukodystrophy:

deficient enzyme
accumulated substrate
arylsulfatase A

cerebroside sulfate
mucopolysaccharidoses (2)
Hurler's
Hunter's
mucopolysaccharidosis:

developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly
Hurler's syndrome
Hurler's syndrome:

MOI
deficient enzyme
accumulated substrates (2)
AR

α-L-iduronidase

heparan sulfate
dermatan sulfate
mucopolysaccharidosis:

developmental delay
gargoylism
airway obstruction
hepatosplenomegaly
aggressive behavior
Hunter's syndrome
Hunter's syndrome:

MOI
deficient enzyme
accumulated substrates (2)
XLR (hunters aim for the X)

iduronate sulfatase

heparan sulfate
dermatan sulfate