Search Ontology:
Human Disease
glutaric acidemia I
- Term ID
- DOID:0111254
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/16602100
- References
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- GARD:6522
- MESH:C536833
- MIM:231670
- ORDO:25
- Ontology
- Human Disease ( DOID:0111254 )
- is a type of
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Genes Involved
Zebrafish Models