lysosomal storage diseases key words high yield DIT Flashcards by conrad landers | Brainscape

Q

optic atrophy

myelin sheath involvement

galactocerebrosidase deficiency

A

Krabbe disease

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Q

Renal failure

Angiokeratomas

alpha- Galactosidase deficiency

A

FABRY disease

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Q

a-L-iduronidase deficiency

Corneal Clouding

Dwarfism

A

Hurlers syndrome

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Q

Macrophages w/ Cytoplasmic fibrils

thrombocytopenia

Glucocerebrosidase def

A

gaucher disease

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Q

hexosaminidase A def

No hepatosplenomegaly

cherry red spot on macula

A

TAY-SACHs

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Q

aggressive behavior

no corneal clouding

iduronate sulfatase def

A

hunter syndrome

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Q

progressive vision loss and dementia

similar to Krabbe

arylsulfastase def

A

metachromatic leukodystrophy

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Q

FOAM CELLS*

cherry red spot on macula

hepatosplenomegaly

sphingomyelinase def

A

niemann pick disease

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Q

A

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