Disease association ontology term - MONDO:0013877 - mitochondrial pyruvate carrier deficiency
Term summary
- ID
- MONDO:0013877
- Name
- mitochondrial pyruvate carrier deficiency
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.
