Flashcards in Lysosomal storage disease Deck (12)
Peripheral neuropathy of hands and feet
lacks alpha glactosidase and accumulates ceramide trihexoside.
Leads to hepatosplenomegaly, pancytopenia, osteoperosis, aseptic necrosis of the femur and bone crises.
Look for gaucher lipid laden macrophage cells.
Progressive neurodegeneration with hepatosplenomegaly and foam cells.
CHERRY RED SPOT ON MACULA
Deficient in sphingomyelinase
CHERRY RED SPOT ON MACULA (like neiman pick)
Lysosomes will have onion skinning
unlike neiman pick there will be no hepatosplenomegaly.
Deficiency in hexosaminidase A
Central and peripheral demyelination with ataxia and dementia.
build up of arylsulfatase A
Developmental delay, gargoylism, airway obstructions, corneal clouding.
Deficient in alpha L iduronidase
Accumulate heparan sulfate.
Mild hurler + agressive behavior with no corneal clouding
Deficient in iduronate sulfatase
Buildup in heparan sulfate.
No man picks ....
No man picks his nose with his sphinger
"Neiman Sacks build up of sphingomyelin
Hunters see ....
Hunters see clearly (no corneal clouding) and agressively aim for the X (X-linked recessive)