Pyruvate carboxylase deficiency disease
Pyruvate carboxylase deficiency disease
Definition
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Also known as ataxia with lactic acidosis type 2, ataxia with lactic acidosis type II, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency, pyruvate carboxylase deficiency disease — per MONDO