Cure My Disease

Don't miss your cure!

 Log in / Sign up

Pyruvate carboxylase deficiency disease

MONDO:0009949

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

24 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Sub-types

Pyruvate carboxylase deficiency, benign type (0) Pyruvate carboxylase deficiency, infantile form (0) Pyruvate carboxylase deficiency, severe neonatal type (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Glucose metabolism disease (54) Inborn errors of metabolism (42) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Disease by developmental or physiological process (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
Sort by