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Flashcards in GSD Deck (14):
1

What is the deficient enzyme in Von Gierke disease?

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

2

What is the deficient enzyme in Pompe Disease II?

Lysosomal (acid)
Glucosidase (acid maltose)

3

what enzyme is deficient in III Cori Disease ?

Glycogen debranching enzyme

4

what enzyme is deficient in IV Andersen Disease ?

Glycogen branching enzyme

5

what enzyme is deficient in V McArdle Syndrome ?

Muscle glycogen phosporylase

6

what enzyme is deficient in VI Hers Disease ?

Liver glycogen phosphorylase

7

what enzyme is deficient in VII Tarui Disease ?

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

8

what is the prevalence of Von Gierke disease?

25%

9

what is the prevalence of Pompe disease?

15%

10

what is the prevalence of Cori disease?

24%

11

what is the prevalence of Andersen disease?

3%

12

what is the prevalence of McArdle syndrome?

2%

13

what is the prevalence of Hers disease?

30%

14

what is the prevalence of Tarui disease?

0.2%