Lysosomal storage disease Flashcards
Fabry disease
Peripheral neuropathy of hands and feet
lacks alpha glactosidase and accumulates ceramide trihexoside.
Gauchers disease
VERY COMMON
Deficient glucocerebrosidase
Leads to hepatosplenomegaly, pancytopenia, osteoperosis, aseptic necrosis of the femur and bone crises.
Look for gaucher lipid laden macrophage cells.
Niemann-pick disease
Progressive neurodegeneration with hepatosplenomegaly and foam cells.
CHERRY RED SPOT ON MACULA
Deficient in sphingomyelinase
Tay-Sachs disease
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
Krabbe disease
Peripheral neuropathy
developmental delay
optic atrophy
globoid cells
Lack galactocerebrosidase
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and dementia.
build up of arylsulfatase A
Hurler syndrome
Developmental delay, gargoylism, airway obstructions, corneal clouding.
Deficient in alpha L iduronidase
Accumulate heparan sulfate.
Hunter Syndrome
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
Tay-SaX lacks….
HeXosaminidase
Hunters see ….
Hunters see clearly (no corneal clouding) and agressively aim for the X (X-linked recessive)
Which two lysosomal storage diseases are most commony seen in Ashkenazi jews?
Tay sachs and Neiman pick and some forms of Gauchers disease.
