Term Name: | oxoglutarate dehydrogenase deficiency |
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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 ) |