title: Glutaric acidemia type 1.
abstract: Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. This disorder can be identified by increased glutaryl (C5DC) carnitine on newborn screening. Urine organic acid analysis indicates the presence of excess 3-OH-glutaric acid, and urine acylcarnitine profile shows glutaryl carnitine as the major peak. Therapy consists in carnitine supplementation to remove glutaric acid, a diet restricted in amino acids capable of producing glutaric acid, and prompt treatment of intercurrent illnesses. Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1.
authors.affiliation: Radiology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA.
authors.forename: Gary L
authors.initials: GL
authors.lastname: Hedlund
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
authors.forename: Marzia
authors.initials: M
authors.lastname: Pasquali
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*; D000818:Animals; D020739:Brain Diseases, Metabolic, Inborn / Q000378:metabolism / Q000473:pathology*; D002331:Carnitine / Q000378:metabolism*; D005977:Glutarates / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency; D006801:Humans
chemical_list: D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine