Term Name: glutaric acidemia I
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 )

Relationships
is a type of: autosomal recessive disease organic acidemia