Lysosomal storage disease Flashcards
Fabry disease findings
Peripheral neuropathy of hands and feet
Angiokeratomas
Cardiovascular and renal disease
Fabry disease deficient enzyme and accumulated substrate
Enzyme: Alpha galactosidase A
Substrate: Ceramide trihexoside
Gaucher disease findings
Most common Hepatosplenomegaly, pancytopenia Osteoporosis Aseptic necrosis of the femur Bone crises
Gaucher disease deficient enzyme and accumulated substrate
Glucocerebrosidase
Glucocerebroside
Niemann Pick disease findings
Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry red spot on macula
Niemann Pick disease deficient enzyme and accumulated substrate
Sphingomyelinase
Sphingomyelin
Tay Sachs disease findings
Progressive neurodegeneration Developmental delay Cherry red spot on macula Lysosomes with onion skin NO hepatomegaly
Tay-Sachs disease deficient enzyme and accumulated substrate
Hexosaminidase A
GM2 ganglioside
Krabbe disease findings
Peripheral neuropathy
developmental delay
Optic atrophy
Globoid cells
Krabbe disease deficient enzyme and accumulated substrate
Galactocerebrosidase
Galactocerebroside
Pschosine
Metachromatic leukodystrophy findings
Central and peripheral demyelination with ataxia
Dementia
Hurler syndrome findings
Developmental delay Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly
Hunter syndrome findings
Mild Hurler’s with aggressive behavior
No corneal clouding