Glycogen Storage Diseases

Question 1

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type I Von Gierke

Answer 1

Defective Enzyme: G6P

Organ Affected: Liver and Kidney

Glycogen in the Affected Organ: Increased glycogen

Question 2

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type II Pompe

Answer 2

Defective Enzyme: Alpha- 1,4- Glucosidase (lysosomal)

Organ Affected: All organs

Glycogen in the Affected Organ: Massive increase in glycogen

Question 3

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type III Cori

Answer 3

Defective Enzyme: Alpha-1,6-Glucosidase (debranching enzyme)

Organ Affected: Muscle and Liver

Glycogen in the Affected Organ: Increase in glycogen, shorter outer branches

Question 4

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type IV Andersen

Answer 4

Defective Enzyme: Glucosyl (4:6) Transferase (branching enzyme)

Organ Affected: Liver and spleen

Glycogen in the Affected Organ: Normal amount of glycogen, very long outer branches

Question 5

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type V McArdle

Answer 5

Defective Enzyme: Glycogen Phosphorylase

Organ Affected: Muscle

Glycogen in the Affected Organ: Moderate increase

Question 6

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type VI Hers

Answer 6

Defective Enzyme: Glycogen Phosphorylase

Organ Affected: Liver

Glycogen in the Affected Organ: Increased glycogen

Question 7

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type VII

Answer 7

Defective Enzyme: Phosphofructokinase

Organ Affected: Muscle

Glycogen in the Affected Organ: Increased glycogen

Question 8

Describe the defective enzyme, organ affected, and the change in glycogen in the affected organ for the disease:
Type VIII

Answer 8

Defective Enzyme: Phosphorylase Kinase

Organ Affected: Liver

Glycogen in the Affected Organ: Increased glycogen