Enzyme deficiency

Von Gierke disease (GSD I)

What is missing: Glucose-6-phosphatase.

Presentation

Severe fasting hypoglycemia, enlarged liver, lactic acidosis, high uric acid and lipids

Why the signs follow

Glucose-6-phosphate accumulates and cannot be released. It backs up into glycolysis (lactate), the pentose phosphate pathway (urate) and lipogenesis. Glucagon produces no rise in blood glucose.

Written for exam preparation, not for diagnosis.

Gluconeogenesis pathway Glycogenolysis pathway All control points