has material basis in germline mutation in OGDH inborn mitochondrial metabolism disorder oxoglutaricaciduria https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/oxoglutarate_dehydrogenase_deficiency MESH:C536582 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. ALPHA-ketoglutarate dehydrogenase deficiency GARD:0000617 Alpha KGD deficiency Orphanet:31 oxoglutarate dehydrogenase deficiency 2 alpha ketoglutarate dehydrogenase deficiency 2-ketoglutarate dehydrogenase deficiency DOID:0081326 SCTID:733630004 OMIM:203740 UMLS:C2752074 Alpha-ketoglutarate dehydrogenase deficiency MONDO:0008759 MEDGEN:414553 Alpha-Kgd deficiency Oxoglutaric aciduria tricarboxylic acid cycle disorder hereditary peripheral neuropathy