Glycogen Storage Diseases

Question 1

Von Gierke

Answer 1

Glucose-6-Phosphate Deficiency

Question 2

Pompe

Answer 2

1,4 alpha-glucosidase

Question 3

Cori

Answer 3

Debranching Enzyme

Question 4

Anderson

Answer 4

Branching Enzyme

Question 5

McArdle

Answer 5

Glycogen Phosphorylase (muscle)

Question 6

Hers

Answer 6

Glycogen Phosphorylase (liver)

Question 7

Tarui

Answer 7

PFK-1

Question 8

Phosphorylase b Kinase Deficiency

Answer 8

Liver

Increased glycogen with mild liver enlargement and hypoglycemia.

Question 9

Von Gierke Effects

Answer 9

Liver/kidney

Increased glycogen with enlarged liver and severe effects

Question 10

Pompe Effects

Answer 10

All organs

Massive increase in glycogen with death before 2

Question 11

Cori Effects

Answer 11

Muscle/liver

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

Question 12

Anderson Effects

Answer 12

Liver/Spleen

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

Question 13

McArdle Effects

Answer 13

Muscle

Moderately increased glycogen in the muscle with inability to exercise

Question 14

Hers Effects

Answer 14

Liver

Increased glycogen with symptoms like Von Gierke but milder

Question 15

Tarui Effects

Answer 15

Muscle

Increased glycogen with symptoms like McArdle

Question 16

Glycogen Synthase Deficiency

Answer 16

Decreased glycogen and will result in hypoglycemia