Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia

J Inherit Metab Dis. 2001 Dec;24(7):691-5. doi: 10.1023/a:1012995701589.

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.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Ammonia / blood*
  • Child
  • Child, Preschool
  • Citrullinemia / blood*
  • Glutamine / blood*
  • Humans
  • Ornithine Carbamoyltransferase Deficiency Disease / blood*
  • Retrospective Studies

Substances

  • Glutamine
  • Ammonia