Term Name:	oxoglutarate dehydrogenase deficiency
Synonyms:	alpha-ketoglutarate dehydrogenase deficiency, Oxoglutaric aciduria
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.
Ontology:	Human Disease [DOID:0081326]   ( DOID:0081326 )