Enzyme deficiency

Hereditary fructose intolerance

What is missing: Aldolase B.

Presentation

Vomiting, hypoglycemia and jaundice appearing when an infant is weaned onto fruit or sucrose

Why the signs follow

Fructose-1-phosphate accumulates and sequesters the cell's free phosphate, which shuts down both glycogenolysis and gluconeogenesis. Symptoms begin as soon as fructose enters the diet.

Written for exam preparation, not for diagnosis.

Glycolysis pathway All control points