glutaric acidemia I

Term ID

DOID:0111254

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. https://www.ncbi.nlm.nih.gov/pubmed/16602100

References

• GARD:6522
• MESH:C536833
• MIM:231670
• ORDO:25

Ontology

Human Disease   ( DOID:0111254 )