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13 lat temu • 0

Tay-Sachs disease Krabbe’s disease
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells	Galactocerebrosidase	Galactocerebroside	AR
Metachromatic leukodystrophy	Central and peripheral demyelination with ataxia, dementia	Arylsulfatase A	Cerebroside sulfate	AR
Mucopolysaccharidoses
Hurler’s syndrome	Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly	α-L-iduronidase	Heparan sulfate, dermatan sulfate	AR
Hunter’s syndrome

Progressive neurodegeneration,

developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann-Pick)

Hexosaminidase A GM2ganglioside AR

Mild Hurler’s + aggressive behavior, no Iduronate sulfatase Heparan sulfate, XR

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