Disease association ontology term - MONDO:0009502 - pyruvate dehydrogenase E2 deficiency
Term summary
- ID
- MONDO:0009502
- Name
- pyruvate dehydrogenase E2 deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
