title: Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
abstract: A retrospective review of the plasma ammonia and glutamine concentrations during the long-term management of 7 patients with ornithine carbamoyltransferase (OCT) deficiency and three with citrullinaemia is presented. The relationship between the plasma concentrations of ammonia and glutamine is not a simple linear one and there are significant differences between the two disorders. Patients with citrullinaemia tend to have higher plasma ammonia concentrations for a given plasma glutamine concentration compared to those with OCT deficiency. The possible reasons for these differences and the implications for management are discussed.
authors.affiliation: Metabolic Unit, Great Ormond Street Hospital for Children, London, UK.
authors.forename: C J
authors.initials: CJ
authors.lastname: Wilson
authors.forename: P J
authors.initials: PJ
authors.lastname: Lee
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D000641:Ammonia / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D020159:Citrullinemia / Q000097:blood*; D005973:Glutamine / Q000097:blood*; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood*; D012189:Retrospective Studies
chemical_list: D005973:Glutamine; D000641:Ammonia