Disease association ontology term - MONDO:0008759 - oxoglutaricaciduria
Term summary
- ID
- MONDO:0008759
- Name
- oxoglutaricaciduria
- Ontology or CV name
- Disease association
- Definition
- A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
