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30 Cards in this Set

  • Front
  • Back
What lysosomal storage dz has renal failure?
What lysosomal dz has optic atrophy, spasticity and early death?
Lysosomal Dz that is compatible with a normal life usually?
Gaucher's Dz
Lysosomal Dz w/ increase in sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells?
Niemann-Pick Dz
What lysosomal Dz has cherry-red spot on macula?
Tay-Sachs Dz

Take them in the Sack (the cherries)
What lysosomal Dz has accumulation of sulfatide in brain, kidney, liver and peripheral nerves?
Metachromatic Leukodystrophy
What enzyme is deficient in Fabry's Dz?
What accumulates in Fabry's Dz?
ceramide trihexoside
What mode of inheritane is Fabry's Dz?
What enzyme is deficient in Krabbe's?
What accumulates in Krabbe?
What enzyme is deficient in Krabbe?
What enzyme is deficient in Gaucher's Dz?
What accumulates in Gaucher's?
What enzyme is deficient in Niemann-Pick?
What accumulates in Neimann-Pick's?
sphingomyelin and cholesterol
What enzyme is deficient in Tay-Sachs?
Hexosaminidase A
WHat accumulates in Tay-Sach's Dz?
GM2 ganglioside
What enzyme is deficient in Metachromatic Leukodystrophy?
ArylSulfatase A
What accumulates in Metachromatic Leukodystrophy?
What enzyme is deficient in Hurler's Sx?
What accumulates in Hurler's Sx?
Increase in dermatan sulfate
What enzyme is deficient in Hunter's?
iduronate sulfatase
What accumulates in Hunter's?
Heparan Sulfate
What are the two Lysosomal Storage Dz that are X-linked?
Fabry's X and Hunter's X
What lysosomal Dz has corneal clouding and mental retardation?
Hurler's Sx
What lysosomal Dz has mild mental retardation?
Hunter's Sx

the hunter needs to see what he is shooting, So NO corneal clouding...
What lysosomal Dz has gargoyle facies?
Hurler's Dz
What lysosomal dz has flaring of the distal femur? (Like Erlehnmeyer Flask)
Gaucher's Dz
What two lysosomal Dz are associated with Jews?
Tay-Sach's and Gaucher's Dz