Glycogenolysis & Glycogenesis

Question 1

Type 1: Von Gierke’s Disease

Answer 1

• Defective G-6-P
• can’t produce glycogen and G-6-P accumulates in glycogenolysis and gluconeogenesis AND glycogen accumulates
• only effects the liver
• enlarged liver and hypoglycemia

Question 2

Type 2: Pompe’s Disease

Answer 2

-Defective lysosomal alpha-1,4-glucosidase

Question 3

Type 3: Cori’s/Forbes’ Disease

Answer 3

• Defective alpha-1,6-glucosidase (debranching)
• G-1-P release slows since you can’t get rid of 1,6 branch
• Glycogen accumulates

Question 4

Type 5: McArdie’s Disease

Answer 4

• Defective glycogen phosphorylase isozyme in skeletal muscle
• glycogen accumulates
• results in muscle protein being used as primary glycolytic fuel if there isn’t enough blood glucose

Question 5

Type 6: Her’s Disease

Answer 5

• Defective glycogen phosphorylase isozyme in liver

- glycogen accumulates – enlarged liver