Oxoglutaricaciduria

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, 2 alpha ketoglutarate dehydrogenase deficiency, 2-ketoglutarate dehydrogenase deficiency, ALPHA-ketoglutarate dehydrogenase deficiency, Alpha KGD deficiency, Alpha-Kgd deficiency, Oxoglutaric aciduria

19 clinical trials for this condition and its sub-types, 0 tagged with Oxoglutaricaciduria itself.