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glutaric acidemia I
Summary
- Synonym
-
- GA1
- glutaric academia type 1
- glutaric aciduria 1
- glutaric aciduria type I
- glutaryl-coA dehydrogenase deficiency
- glutaryl-coenzyme A dehydrogenase deficiency
- Definition
- An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
- Super Class
- autosomal recessive disease organic acidemia
External Links
- Disease Ontology
- DOID:0111254
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100954 | Open operculum |
| HP:0001946 | Ketosis |
| HP:0001264 | Spastic diplegia |
| HP:0003621 | Juvenile onset |
| HP:0000750 | Delayed speech and language development |
| HP:0002919 | Ketonuria |
| HP:0007105 | Infantile encephalopathy |
| HP:0000238 | Hydrocephalus |
| HP:0002179 | Opisthotonus |
| HP:0006873 | Symmetrical progressive peripheral demyelination |
