lysosomal storage diseases key words high yield DIT Flashcards Preview

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Flashcards in lysosomal storage diseases key words high yield DIT Deck (9)
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1
Q

optic atrophy

myelin sheath involvement

galactocerebrosidase deficiency

A

Krabbe disease

2
Q

Renal failure

Angiokeratomas

alpha- Galactosidase deficiency

A

FABRY disease

3
Q

a-L-iduronidase deficiency

Corneal Clouding

Dwarfism

A

Hurlers syndrome

4
Q

Macrophages w/ Cytoplasmic fibrils

thrombocytopenia

Glucocerebrosidase def

A

gaucher disease

5
Q

hexosaminidase A def

No hepatosplenomegaly

cherry red spot on macula

A

TAY-SACHs

6
Q

aggressive behavior

no corneal clouding

iduronate sulfatase def

A

hunter syndrome

7
Q

progressive vision loss and dementia

similar to Krabbe

arylsulfastase def

A

metachromatic leukodystrophy

8
Q

FOAM CELLS*

cherry red spot on macula

hepatosplenomegaly

sphingomyelinase def

A

niemann pick disease

9
Q
A