Glycogen storage diseases

Question 1

Affected organ in glycogen synthase deficiency

Answer 1

Liver

Question 2

Amount of glycogen in glycogen synthase deficiency

Answer 2

Decreased

Question 3

Clinical features of glycogen synthase deficiency

Answer 3

Hypoglycemia, postprandial lactic acidemia, fasting ketosis

Question 4

Name for glucose-6-phosphatase deficiency

Answer 4

Von Gierke’s disease

Question 5

Affected organ in G6Pase deficiency

Answer 5

Liver and kidney

Question 6

Glycogen in G6Pase deficiency

Answer 6

Increased; normal structure

Question 7

Clinical features in G6Pase deficiency

Answer 7

Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis

Question 8

1,4 alpha glucosidase deficiency

Answer 8

Pompe’s disease

Question 9

Organs affected by 1,4 alpha glucosidase deficiency

Answer 9

All organs

Question 10

Glycogen in 1,4 alpha glucosidase deficiency

Answer 10

Massively increased, normal structure

Question 11

Clinical features of 1,4 alpha glucosidase deficiency

Answer 11

Cardiopulmonary failure and death before age 2

Question 12

Glycogen debranching enzyme deficiency

Answer 12

Cori disease

Question 13

Organs affected by glycogen debranching enzyme deficiency

Answer 13

Kidneys and liver

Question 14

Glycogen in glycogen debranching enzyme disorder deficiency

Answer 14

Increased; short outer branches

Question 15

Clinical features of glycogen debranching enzyme

Answer 15

Milder von Gierke symptoms

Question 16

Glycogen branching disease

Answer 16

Anderson’s disease

Question 17

Organs affected by glycogen branching disease

Answer 17

Liver and spleen

Question 18

Glycogen in glycogen branching disease

Answer 18

Normal amount; long branches

Question 19

Clinical features of glycogen branching disease

Answer 19

Progressive liver cirrhosis that causes death before age 2

Question 20

Phosphorylase deficiency in the muscle

Answer 20

McArdle’s disease

Question 21

Glycogen in McArdle’s disease

Answer 21

Moderate amount; normal structure

Question 22

Clinical features of McArdle’s disease

Answer 22

Limited ability to perform strenuous exercise; painful muscle cramps

Question 23

Phosphorylase deficiency in the liver

Answer 23

Hers disease

Question 24

Glycogen in Hers disease

Answer 24

Increased

Question 25

Clinical features of Hers disease

Answer 25

Like von Gierke’s disease, but milder

Question 26

PFK-1 deficiency

Answer 26

Tarui disease

Question 27

Organs affected by PFK-1 deficiency

Answer 27

Muscles

Question 28

Glycogen in PFK-1 deficiency

Answer 28

Increased

Question 29

Clinical features of PFK-1 deficiency

Answer 29

Like McArdle’s disease

Question 30

Organs affected by phosphorylase b kinase deficiency

Answer 30

Liver

Question 31

Glycogen in phosphorylase b kinase deficiency

Answer 31

Increased amount, normal structure

Question 32

Clinical features of phosphorylase b kinase deficiency

Answer 32

Mild liver enlargement, mild hypoglycemia