| Metadata | |
|---|---|
| ID | DOID:0111254 |
| Name | glutaric acidemia I |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
GA1 [EXACT] glutaric academia type 1 [EXACT] glutaric aciduria 1 [EXACT] glutaric aciduria type I [EXACT] glutaryl-coA dehydrogenase deficiency [EXACT] glutaryl-coenzyme A dehydrogenase deficiency [EXACT] |
| Parent Relationships |
is_a organic acidemia |