Enzyme deficiency

Pyruvate kinase deficiency

What is missing: Pyruvate kinase.

Presentation

Chronic hemolytic anemia from birth, with splenomegaly and jaundice

Why the signs follow

Red cells have no mitochondria, so glycolysis is their only ATP source. Losing the final ATP-generating step collapses the membrane pumps and the cell lyses. 2,3-BPG accumulates upstream, which shifts the oxygen curve right.

Written for exam preparation, not for diagnosis.

Glycolysis pathway All control points