Lysosomal storage disease Flashcards Preview

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Flashcards in Lysosomal storage disease Deck (12)
1

Fabry disease

Peripheral neuropathy of hands and feet
lacks alpha glactosidase and accumulates ceramide trihexoside.

2

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.

3

Niemann-pick disease

Progressive neurodegeneration with hepatosplenomegaly and foam cells.
CHERRY RED SPOT ON MACULA

Deficient in sphingomyelinase

4

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

5

Krabbe disease

Peripheral neuropathy
developmental delay
optic atrophy
globoid cells

Lack galactocerebrosidase

6

Metachromatic leukodystrophy

Central and peripheral demyelination with ataxia and dementia.

build up of arylsulfatase A

7

Hurler syndrome

Developmental delay, gargoylism, airway obstructions, corneal clouding.

Deficient in alpha L iduronidase
Accumulate heparan sulfate.

8

Hunter Syndrome

Mild hurler + agressive behavior with no corneal clouding

Deficient in iduronate sulfatase
Buildup in heparan sulfate.

9

No man picks ....

No man picks his nose with his sphinger
"Neiman Sacks build up of sphingomyelin

10

Tay-SaX lacks....

HeXosaminidase

11

Hunters see ....

Hunters see clearly (no corneal clouding) and agressively aim for the X (X-linked recessive)

12

Which two lysosomal storage diseases are most commony seen in Ashkenazi jews?

Tay sachs and Neiman pick and some forms of Gauchers disease.

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