Glycogen Storage Diseases Flashcards Preview

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Flashcards in Glycogen Storage Diseases Deck (16)
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1

Von Gierke

Glucose-6-Phosphate Deficiency

2

Pompe

1,4 alpha-glucosidase

3

Cori

Debranching Enzyme

4

Anderson

Branching Enzyme

5

McArdle

Glycogen Phosphorylase (muscle)

6

Hers

Glycogen Phosphorylase (liver)

7

Tarui

PFK-1

8

Phosphorylase b Kinase Deficiency

Liver
Increased glycogen with mild liver enlargement and hypoglycemia.

9

Von Gierke Effects

Liver/kidney
Increased glycogen with enlarged liver and severe effects

10

Pompe Effects

All organs
Massive increase in glycogen with death before 2

11

Cori Effects

Muscle/liver
Increases glycogen like in Von Gierke but is milder with short branches

12

Anderson Effects

Liver/Spleen
Normal glycogen level but are found in long branches with death by 2

13

McArdle Effects

Muscle
Moderately increased glycogen in the muscle with inability to exercise

14

Hers Effects

Liver
Increased glycogen with symptoms like Von Gierke but milder

15

Tarui Effects

Muscle
Increased glycogen with symptoms like McArdle

16

Glycogen Synthase Deficiency

Decreased glycogen and will result in hypoglycemia

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