※ PTMD 2.0 database Online Browse Options
Browse result for Glutaric acidemia I
※ introduction 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.
Reference
DiseaseOntology: Glutaric acidemia I
Reference
DiseaseOntology: Glutaric acidemia I
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00902 | P31327 | 1373 | CPS1 | Carbamoyl-phosphate synthase [ammonia], mitochondrial | Homo sapiens |
