glutaric acidemia I

glutaric academia type 1

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.

http://purl.obolibrary.org/obo/DOID_0111254

MESH:C536833

ORDO:25

OMIM:231670

GARD:6522

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.

glutaric academia type 1

glutaryl-coA dehydrogenase deficiency

glutaric aciduria type I

glutaryl-coenzyme A dehydrogenase deficiency

glutaric aciduria 1

GA1

http://purl.obolibrary.org/obo/GENO_0000148

disease_ontology

DOID:0111254

http://purl.obolibrary.org/obo/doid#DO_rare_slim

glutaric acidemia I

DOID:0111254

glutaric acidemia I

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0060159