Pyruvate carboxylase deficiency, infantile form
Pyruvate carboxylase deficiency, infantile form
Definition
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
Also known as pyruvate carboxylase deficiency type A — per MONDO