Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the
conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle
intermediates and facilitates other biosynthetic reactions that drive anabolism. Its deficiency
causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia
and neurological dysfunction at an early age. Three clinical forms of PC deficiency have
been identified: an infantile form (Type A), a severe neonatal form (Type B), and a benign …