Disease association ontology term - MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency
Term summary
- ID
- MONDO:0010717
- Name
- pyruvate dehydrogenase E1-alpha deficiency
- Ontology or CV name
- Disease association
- Definition
- Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
