" /> Pyruvate Carboxylase Deficiency - CISMeF





Preferred Label : Pyruvate Carboxylase Deficiency;

NCIt synonyms : Pyruvate Carboxylase Deficiency Disease;

NCIt 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.;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.