GLYCOGEN STORAGE DISEASES

Question 1

Severe fasting hypoglycemia, Glycogen in liver and kidneys, blood lactate, triglycerides, uric acid (Gout), and hepatomegaly, renomegaly.

Liver does not regulate blood glucose.

deficiency: Glucose-6-phosphatase

Answer 1

Von Gierke disease

type I

Question 2

Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, and systemic findings lead to early death.

deficiency: Lysosomal acid α-1,4- glucosidase (acid maltase) with α-1,6-glucosidase activity

Answer 2

Pompe disease
(type II)

Question 3

Similar to von Gierke disease, but milder symptoms and
normal blood lactate levels.

Can lead to cardiomyopathy. Limit dextrin–like structures accumulate in cytosol.

deficiency: Debranching enzymes (α-1,6-glucosidase and
4-α-d glucanotransferase)

Answer 3

Cori disease
(type III)

Question 4

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

deficiency in Skeletal muscle glycogen
phosphorylase

Answer 4

McArdle disease
(type V)