oxoglutarate dehydrogenase deficiency

Term ID

DOID:0081326

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. https://pubmed.ncbi.nlm.nih.gov/32383294/

References

• GARD:617
• MIM:203740
• ORDO:31

Ontology

Human Disease   ( DOID:0081326 )