Pyruvate Carboxylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.

**Synonyms:** - Pyruvate Carboxylase Deficiency Disease