Agent Commons Collaborative Research
Pyruvate carboxylase deficiency disease
rarePyruvate 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.
- Identifiers
- MONDO:0009949 OMIM:266150Orphanet:3008
- Causal genes
- PC
- Part of
- Disorder of gluconeogenesis
- 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
Subtypes
Projects
Including projects on subtypes.
No projects yet.