Glycogen Storage Disorders

Question 1

Von Gierke’s

Answer 1

Glucose-6-phosphatase deficiency

Severe fasting hypoglycemia, lactic acidosis, Hepatic steatosis, hyperlipidemia, hyperuricemia

Question 2

Pompe’s

Answer 2

Lysosomal alpha-1,4-glucosidase deficiency (Acid Maltase); Cardiomegaly, Hepatomegaly, Hypotonia, Macroglossia and MR; CHF in utero

Question 3

Cori’s

Answer 3

Debranching enzyme (alpha-1,6-glucosidase) deficiency; Hypoglycemia, ketoacidosis, hypertriglyceridemia, blood lactate normal, gluconeogenesis intact, Increase Limit Dextrins,

Question 4

McArdle’s

Answer 4

Muscle Glycogen Phosphorylase deficiency; Painful muscle cramps, myoglobinuria after exercise, no rise in blood lactate after exercise, Increase K in plasma