Disease association ontology term - MONDO:0019169 - pyruvate dehydrogenase deficiency
Term summary
- ID
- MONDO:0019169
- Name
- pyruvate dehydrogenase deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
