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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:0009716 | Subependymal nodules |
| HP:0009830 | Peripheral neuropathy |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012469 | Infantile spasms |
| HP:0012622 | Chronic kidney disease |
| HP:0012704 | Widened subarachnoid space |
| HP:0012753 | T2 hypointense basal ganglia |
| HP:0100309 | Subdural hemorrhage |
| HP:0100543 | Cognitive impairment |
