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0. Step Ib > Biochem - storage disorders > Flashcards

Biochem - storage disorders Flashcards

1
Q

Gaucher enzyme

A

Glucocerebroside

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1
Q

Krabbe enzyme

A

Galactocerebroside

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1
Q

Fabry accumulated substrate

A

ceramide trihexose

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2
Q

Metachromatic Leukodystrophy enzyme

A

Arylsulfatase

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3
Q

Cherry red spot on macula progressive neurodegeneration + developmental delay

lysosomes w/ onion skinning

no hepatosplenomeagly

A

Tay Sachs

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3
Q

aggressive

no corneal clouding

A

Hunter

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4
Q

peripheral neuropathy

angiokeratoma

cardiovascular + renal problems

A

Fabry

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5
Q

Tay sachs accumulated substrate

A

GM2 ganglioside

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5
Q

developmental delay

airway obstruction

gargoylism

corneal clouding

hepatosplenomeagly

A

hurler

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6
Q

Hurler enzyme

A

alpha-L-iduronidase

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7
Q

Gaucher accumulated substrate

A

glucocerebroside

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8
Q

Krabbe accumulated substrate

A

galactocebrosidase

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9
Q

Hunter accumulated substrate

A

Heparin sulfate + Dermatan Sulfate

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10
Q

Cherry red spot on macula

progressive neurodegeneration

foamy macrophages

hepatosplenomeagly

A

Niemann Pick

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11
Q

pancytopenia

lipid laden macrophages resembling crumpled tissue paper

hepatosplenomeagly

aspetic necrosis of femur/bone

A

Gaucher

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12
Q

Niemann Pick enzyme

A

Sphingomyelin

14
Q

Hurler accumulated substrate

A

Heparin sulfate + Dermatan Sulfate

16
Q

Fabry enzyme

A

alpha-galactosidase A

18
Q

Niemann Pick accumulated substrate

A

Sphingomyelin

19
Q

Hunter enzyme

A

Iduronate Sulfatase

21
Q

peripheral neuropathy

progressive developmental delay

optic atrophy

A

Krabbe

(globoid cells are present)

22
Q

tay sachs enzyme

A

hexosaminidase

23
Q

dementia + ataxia + muscle wasting

A

Metachromatic leukodystrophy - causes central and peripheral demyelination

24
Q

Metachromatic leukodystrophy accumulated substrate

A

cerebroside sulfate

25
Q

which of these lysosomal storage d/o are autosomal recessive? x linked recessive?

A

all are AR inheritance, except

Hunter and Fabry = both XLR

0. Step Ib (19 decks)

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