Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, benign type
Definition
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
Also known as pyruvate carboxylase deficiency type C — per MONDO