GSD Flashcards by Grace Lepis | Brainscape

Q

What is the deficient enzyme in Von Gierke disease?

A

Ia: glucose 6-phosphatase (bound to ER)
Ib:glucose 6-phosphate translocase

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Q

What is the deficient enzyme in Pompe Disease II?

A

Lysosomal (acid)

Glucosidase (acid maltose)

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Q

what enzyme is deficient in III Cori Disease ?

A

Glycogen debranching enzyme

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Q

what enzyme is deficient in IV Andersen Disease ?

A

Glycogen branching enzyme

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Q

what enzyme is deficient in V McArdle Syndrome ?

A

Muscle glycogen phosporylase

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Q

what enzyme is deficient in VI Hers Disease ?

A

Liver glycogen phosphorylase

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Q

what enzyme is deficient in VII Tarui Disease ?

A

Glycolysis:
Muscle PFK-1
RBC PFK-1 (M isoform)

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Q

what is the prevalence of Von Gierke disease?

A

25%

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Q

what is the prevalence of Pompe disease?

A

15%

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Q

what is the prevalence of Cori disease?

A

24%

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Q

what is the prevalence of Andersen disease?

A

3%

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Q

what is the prevalence of McArdle syndrome?

A

2%

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Q

what is the prevalence of Hers disease?

A

30%

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Q

what is the prevalence of Tarui disease?

A

0.2%

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