Glycogen Storage

Question 1

Von Gierke (1)

Answer 1

Hepatomegaly steatosis, gout, lactic acidosis, fasting hypoglycemia, lactic acidosis

Glucose 6 phosphatase

Question 2

Pompe (2)

Answer 2

Cardiomegaly, normal glucose, glycogen accum in lysosomes, exercise intolerance

Acid alpha glycosidase/ acid Maltase

Question 3

Cori (3)

Answer 3

Accumulation of limit dextrin

Debranching enzyme (alpha 1,6 glucosidase)

Question 4

McCardle (5)

Answer 4

Skeletal muscle glycogen phosphorylase