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Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
Disease: Fabry’s

Enzyme: a-galactosidase A

Substrate: Ceramide trihexoside
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper
Disease: Gaucher’s
Enzyme: beta-glucocerebrosidase
Substrate: Glucocerebroside
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Disease: Niemann-Pick

Enzyme: Sphingomyelinase

Substrate: Sphingomyelin
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly
Disease: Tay-Sachs
Enzyme: Hexosaminidase A
Substrate: GM2 Ganglioside
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Disease: Krabbe’s

Enzyme: Galactocerebrosidase

Substrate: Galactocerebroside
Central and peripheral demyelination with ataxia, dementia
Disease: Metachromatic leukodystrophy

Enzyme: Arylsulfatase A

Substrate: Cerebroside Sulfate
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Disease: Hurler’s

Enzyme: alpha-L-iduronidase

Substrate: Heparan sulfate, dermatan sulfate
Aggressive behavior, mental retardation, no corneal clouding
Disease: Hunter’s

Enzyme: Iduronate sulfatase

Substrate: Heparan sulfate, dermatan sulfate
Deficiency in mannose phosphorylation, corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement, with or without mental retardation
I-cell disease
Corneal clouding, no mental retardation
Scheie's

Substrate: accumulation of dermatin sulfate
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