Lysosomal Storage Diseases Flashcards
Fabry Disease what enzyme defect?
α-galactosidase A
Fabry Disease what accumulates?
Ceramide trihexoside
Inheritance of Fabry Disease?
XR
Triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis. Late: progressive renal failure, cardiovascular disease.
Fabry Disease
Gaucher Disease what enzyme defect?
Glucocerebrosidase (β-glucosidase)
What accumulates in Gaucher Disease?
Glucocerebroside
Hepatosplenomegaly, pancytopenia,
osteoporosis, aseptic necrosis of femur, bone crises
Gaucher Disease
What are Gaucher cells?
lipid-laden macrophages resembling crumpled tissue paper
Niemann Pick Disease what enzyme defect?
Sphingomyelinase
“no man picks his sphinger”
What accumulates in Niemann Pick Disease?
Sphingomyelin
Progressive neurodegeneration, hepatosplenomegaly, foam cells, “cherry-red” spot on macula
Riemann Pick Disease
Enzyme Defect in Tay Sachs
Hexosaminidase A
What accumulates in Tay Sachs
GM2 ganglioside
Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly (vs Niemann-Pick).
Tay Sachs Disease
Enzyme Defect in Krabbe
Galactocerebrosidase
What accumulates in Krabbe
Galactocerebroside, psychosine
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
Krabbe Disease
enzyme defect in Metachromatic Leukodystrophy?
Arylsulfatase A
What accumulates in metachromatic leukodystrophy?
Cerebroside sulfate
enzyme defect in Hurler Syndrome?
α-l-iduronidase
what accumulates in Hurler Syndrome?
Heparan sulfate, dermatan sulfate
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Hurler Syndrome
Enzyme Defect in Hunter Syndrome
Iduronate sulfatase
What accumulates in Hunter Syndrome?
Heparan sulfate, dermatan sulfate
