Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
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.
Wilson
C J
CJ
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK.
Lee
P J
PJ
Leonard
J V
JV
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
D005973:Glutamine; D000641:Ammonia