MONDO_0008759 (oxoglutaricaciduria) is 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. Also known as: Alpha-ketoglutarate dehydrogenase deficiency, oxoglutarate dehydrogenase deficiency.