Term Name: | glutaric acidemia I |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111254] ( DOID:0111254 ) |