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oxoglutarate dehydrogenase deficiency
Summary
- Synonym
-
- Oxoglutaric aciduria
- alpha-ketoglutarate dehydrogenase deficiency
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0081326
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002063 | Rigidity |
| HP:0003593 | Infantile onset |
| HP:0001270 | Motor delay |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0000750 | Delayed speech and language development |
| HP:0002317 | Unsteady gait |
| HP:0001332 | Dystonia |
| HP:0003819 | Death in childhood |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000007 | Autosomal recessive inheritance |
