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8 Cards in this Set

  • Front
  • Back
Fabry's Disease
Findings: peripheral neuropathy of hands/feet, anigokeratomas, renal and cardiovascular disease

Deficient enzyme: alpha-galactosidase A

Accumulated substrate: Ceramide trihexoside

Inheritance: X linked recessive
Gaucher's Disease
Findings: Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (MO's)

Deficient enzyme: Beta-glucocerebrosidase

Accumulated substrate: Glucocerebroside

Inheritance: AR
Niemann-Pick disease
Findings: progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macular

Deficient enzyme: Sphingomyelinase

Accumulated substrate: Sphingomyelin

Inheritance: AR
Tay-Sachs Disease
Findings: progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysozymes with onion skin

Deficient enzyme: Hexosaminidase A

Accumulated substrate: GM2 ganglioside

Inheritance: AR
Krabbe's disease
Findings: Peripheral neuropathy, developmental delay, optic atrophy

Deficient enzyme: Beta-galactosidase

Accumulated substrate: galactocerebroside

Inheritance: AR
Metachromatic leukodystrophy
Findings: Central and peripheral demyelination with ataxia, dementia

Deficient lysosomal enzyme: Arylsulfatase A

Accumulated substrate: Cerebroside sulfate

Inheritance: AR
Hurler's syndrome
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Enzymer defect: alpha-L-iduronidase

Accumulated substrate: heparan sulfate and dermatan sulfate

Inheritance: AR
Hunter's syndrome
Mild Hurler's + aggressive behavior, no corneal clouding

Enzyme defect: Iduronate sulfatase

Accumulated substate: heparan sulfate and dermatan sulfate

Inheritance: XR