Glycogen Storage Diseases

Question 1

Von Gierke enzyme Defect

Answer 1

Glucose 6 Phosphatase

Question 2

Pompe Disease enzyme defect

Answer 2

Lysosomal α-1,4-glucosidase (acid maltase)

Question 3

Cori Disease enzyme defect

Answer 3

Debranching enzyme ( α-1,6 - glucosidase)

Question 4

McArdle disease enzyme defect

Answer 4

Skeletal muscle glycogen phosphorylase (Myophosphorylase)

Question 5

Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, increased TGs, gout, hepatomegaly

Answer 5

Von Gierke

Question 6

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, and systemic nds leading to early death.

Answer 6

Pompe

Question 7

Milder form of von Gierke (type I) with normal blood lactate levels. Accumulation of limit dextrin–like structures in cytosol

Answer 7

Cori

Question 8

increased glycogen in muscle, but muscle cannot break it down -> painful muscle cramps, Myoglobinuria (red urine) with strenuous exercise, and arrhythmia from electrolyte abnormalities. Second-wind phenomenon noted during exercise due to increased muscular blood flow.

Answer 8

McArdle

Question 9

How to treat Von Gierke?

Answer 9

frequent oral glucose/cornstarch; avoidance of fructose and galactose
Impaired gluconeogenesis and glycogenolysis

Question 10

Gluconeogenesis is intact in what glycogen storage disorder?

Answer 10

Cori Disease

Question 11

Blood glucose levels typically unaffected in what glycogen storage disease?

Answer 11

McArdles

Question 12

Glucose-6-phosphatase deficiency, what disease?

Answer 12

Von Gierkes

Question 13

Lysosomal α-1,4-glucosidase deficiency, what disease?

Answer 13

Pompe Disease

Question 14

Debranching enzyme ( α-1,6-glucosidase) deficiency, what disease?

Answer 14

Cori Disease

Question 15

Skeletal muscle glycogen phosphorylase (Myophosphorylase) deficiency, what disease?

Answer 15

McArdles Disease