Pyruvate carboxylase deficiency disease

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: Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, Leigh syndrome due to pyruvate carboxylase deficiency, ataxia with lactic acidosis type 2, ataxia with lactic acidosis type II, pyruvate carboxylase deficiency disease, Pc deficiency, ataxia with lactic acidosis 2

0 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate carboxylase deficiency disease itself.