Preferred Name |
glutaric acidemia I |
|
Synonyms |
glutaric aciduria type I |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111254 |
|
database_cross_reference |
OMIM:231670 MESH:C536833 GARD:6522 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. |
|
has exact synonym |
glutaric aciduria type I glutaric aciduria 1 glutaric academia type 1 GA1 glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111254 |
|
in_subset | ||
label |
glutaric acidemia I |
|
notation |
DOID:0111254 |
|
prefLabel |
glutaric acidemia I |
|
subClassOf |