About   Help   FAQ
Disease Ontology Browser
glutaric acidemia I (DOID:0111254)
Alliance: disease page
Synonyms: GA1; glutaric academia type 1; glutaric aciduria 1; glutaric aciduria type I; glutaryl-coA dehydrogenase deficiency; glutaryl-coenzyme A dehydrogenase deficiency
Alt IDs: OMIM:231670, MESH:C536833, ORDO:25
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory