biochem - inborn errors metabolism Flashcards

1
Q

Fabry - deficient enzyme

A

a-galactosidase A

ceramide trihexosidase

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2
Q

Fabry - accumulated substrate

A

ceramide trihexoside

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3
Q

Gaucher - deficient enzyme

A

glucocerebrosidase

beta-glucosidase

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4
Q

Gaucher - accumulated substrate

A

glucocerebroside

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5
Q

Niemann-Pick - deficient enzyme

A

sphingomyelinase

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6
Q

Neimann-Pick - accumulated substrate

A

sphingomyelin

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7
Q

Tay-Sachs - deficient enzyme

A

hexosaminidase A

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8
Q

Tay-Sachs - accumulated substrate

A

GM2 ganglioside

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9
Q

Krabbe - deficient enzyme

A

galactocerebrosidase

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10
Q

Krabbe - accumulated substrate

A

galactocerebroside,

psychosine

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11
Q

metachromatic leukodystrophy - deficient enzyme

A

arylsulfatase A

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12
Q

metachromatic leukodystrophy - accumulated substrate

A

cerebroside sulfate

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13
Q

Hurler - deficient enzyme

A

alpha-L-iduronidase

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14
Q

Hurler - accumulated substrate

A

heparan sulfate, dermatan sulfate

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15
Q

Hunter - deficient enzyme

A

iduronate sulfatase

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16
Q

Hunter - accumulated substrate

A

heparan sulfate, dermatan sulfate

17
Q

angiokeratomas

A

Fabry

18
Q

“tissue paper” macrophages

A

Gaucher

19
Q

pancytopenia, anemia, thrombocytopenia

A

Gaucher

20
Q

“cherry-red” spot on macula

A

Niemann-Pick
Tay-Sachs
Sandhoff

21
Q

cherry-red spot + hepatosplenomegaly

A

Niemann-Pick

Sandhoff

22
Q

optic atrophy

A

Krabbe

23
Q

globoid cells

A

Krabbe

24
Q

brown granules in Schwann cells when stained with toluidine blue

A

cerebroside sulfate

metachromatic leukodystrophy

25
Q

coarse facial features, corneal clouding

A

Hurler

26
Q

cherry-red spot without hepatosplenomegaly

A

Tay-Sachs

27
Q

lysosomes with onion skin

A

Tay-Sachs