Disease_Mapped_To_Gene Cellosaurus Disease Terminology PC Gene Rare Non-Neoplastic Disorder Pyruvate Carboxylase Deficiency Disease or Syndrome Pyruvate Carboxylase Deficiency Cellosaurus 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. Pyruvate Carboxylase Deficiency Disease C85040 NICHD C0034341 Pyruvate Carboxylase Deficiency NICHD Terminology Amino Acid Metabolism Disorder Neonatal Research Network Terminology