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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:0002194 | Delayed gross motor development |
| HP:0001310 | Dysmetria |
| HP:0003700 | Generalized amyotrophy |
| HP:0002066 | Gait ataxia |
| HP:0004902 | Congenital lactic acidosis |
| HP:0001942 | Metabolic acidosis |
| HP:0002527 | Falls |
| HP:0001252 | Hypotonia |
| HP:0002119 | Ventriculomegaly |
