Disease association ontology term - MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency
Term summary
- ID
- MONDO:0009503
- Name
- pyruvate dehydrogenase E3-binding protein deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
