Glycogen Storage Diseases

Question 1

Von Gierke disease findings

Answer 1

Severe fasting hypoglycemia with super increased glycogen in the liver
Increased blood lactate
Increased triglycerides
Increased uric acid

Question 2

Von gierke disease deficient enzyme

Answer 2

Glucose-6-phosphatase

Question 3

Von Gierke disease treatment

Answer 3

Frequent glucose and cornstarch, avoid fructose and galactose

Question 4

Pompe disease findings

Answer 4

Cardiomegaly
Hypertrophic cardiomyopathy
Exercise intolerance
Systemic findings lead to early death

Question 5

Pompe disease deficient enzyme

Answer 5

Lysosomal alpha 1-4 glucosidase

Question 6

Cori disease findings

Answer 6

Mild form of Von Gierke’s

Normal blood lactate levels

Question 7

Cori disease deficient enzyme

Answer 7

Debranching enzyme (alpha 1,6 glucosidase)

Question 8

McArdle disease findings

Answer 8

Increased glycogen in muscle
Painful cramps and myoglobinuria after exercise
Arrhythmia after electrolyte imbalances

Question 9

McArdle Disease deficient enzyme

Answer 9

Skeletal muscle glycogen phosphorylase

Question 10

McArdle Disease treatment

Answer 10

Vitamin B6 (pyridoxine)