/pyruvate carboxylase deficiency disease

pyruvate carboxylase deficiency disease

Rare Disease

MONDO:0009949

Also Known As

Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiencyLeigh syndrome due to PC deficiencyLeigh syndrome due to pyruvate carboxylase deficiencyataxia with lactic acidosis type 2ataxia with lactic acidosis type IIdeficiency of pyruvic carboxylasepyruvate carboxylase deficiency diseasePc deficiencyataxia with lactic acidosis 2pyruvate carboxylase deficiency

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.