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Genetics > lyososmal disease > Flashcards

lyososmal disease Flashcards

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Biology 101 flashcards
1
Q

Fabry

A

XR
triad - angiokeratoma, peripheral nuropathy, renal failure
enzyme - a- galactosidase
accumualtion -ceramide trihexoside

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2
Q

tay sachs

A

AR
maculae cherry, onion cells inclusions, progresive nuerodegeneration
Hexosaminidase enzyme
GM2 ganglioside

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3
Q

GAuchers disease

A

AR
bone pain, pancytopenia and hepatosplenomegaly lipid laden acrophages
glucocerebrosidase enzyme
glucocerbroside

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4
Q

neiman pick

A 
sphigomyelinase enzyme 
AR
sphingomylin 
foam cells, progressive neurodegenration, hepatosplenomegaly can also have cherry red macula 
( tay sachs has no splenomegaly)
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5
Q

krabbe disease

A

AR
galactocerebrosidase enzyme
galactocerebroside
optic neuropathy, peripheral neuropathy, progressive neurodegenraiton

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6
Q

methachromatic leukodystrophy

A

AR
arylsulfatase A
cerebrosode sulfate
progressive neurodegeneration, peripheral neuropathy

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Genetics (20 decks)

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