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Lysosomal Stor Dis

WVSOM -- First Aid -- Lysosomal Storage Diseases

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease Fabry's Disease
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper Gaucher's disease
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells Neimann Pick
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly Tay-Sachs
How do you differenciate Neimann Pick from Tay-Sachs Niemann Pick has Hepatosplenomegaly
Alpha galactosidase A deficiency Fabry's Disease
Beta-glucocerebrosidase deficiency Goucher's Disease
Sphingomyelinase deficiency Niemann-Pick
Hexosaminidase A Tay-Sachs
Which ones are AR? Goucher, Niemann Pick, Tay Sachs
Accumulation of GM2 glanglioside Tay-Sachs
Accumulation of ceramide trihexoside? Fabry Disease
Developmental Delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly Hurler's Syndrome
How do you differentiate Hurler from Hunter's Syndrome Aggressive behavior and no corneal clouding in Hunter's Syndrome
alpha-L-iduronidase deficiency Hurler's Syndrome
iduronate sulfatase deficiency Hunter Syndrome
Created by: tjamrose