oxoglutarate dehydrogenase deficiency (DOID:0081326)
Alliance: disease page
Synonyms: alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria
Alt IDs: OMIM:203740, ORDO:31
Definition: An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.