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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02218 | 2-oxoglutarate dehydrogenase complex component E1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0010286 | Abnormal salivary gland morphology |
| HP:0000816 | Abnormality of Krebs cycle metabolism |
| HP:0100022 | Abnormality of movement |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000238 | Hydrocephalus |
| HP:0004322 | Short stature |
| HP:0001251 | Ataxia |
| HP:0012401 | Abnormal urine alpha-ketoglutarate concentration |
| HP:0001276 | Hypertonia |
