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Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia
Author(s) -
Wilson C. J.,
Lee P. J.,
Leonard J. V.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012995701589
Subject(s) - glutamine , ornithine carbamoyltransferase , ammonia , medicine , endocrinology , chemistry , biochemistry , ornithine , biology , amino acid , arginine
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.