Disease association ontology term - MONDO:0009529 - pyruvate dehydrogenase E3 deficiency
Term summary
- ID
- MONDO:0009529
- Name
- pyruvate dehydrogenase E3 deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
