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Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.
Smedberg M, Helleberg J, Norberg Å, Tjäder I, Rooyackers O, Wernerman J. Smedberg M, et al. Crit Care. 2021 Jul 7;25(1):240. doi: 10.1186/s13054-021-03640-3. Crit Care. 2021. PMID: 34233720 Free PMC article.
Whereas hypoglutaminemia has been frequently reported, the number of patients with hyperglutaminemia has so far been quite few. Therefore, the association between hyperglutaminemia and mortality outcomes was studied in a prospective, observational study. ...C …
Whereas hypoglutaminemia has been frequently reported, the number of patients with hyperglutaminemia has so far been quite few. There …
Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.
Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Larovere LE, Motrich RD. Silvera-Ruiz SM, et al. Front Immunol. 2022 May 27;13:861516. doi: 10.3389/fimmu.2022.861516. eCollection 2022. Front Immunol. 2022. PMID: 35711415 Free PMC article.
Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia and strikingly increased orotic aciduria. Noteworthy, serum protein electrophoresis showed a reduction in the gamma globulin fraction. . …
Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia …
Endogenous production of glutamine and plasma glutamine concentration in critically ill patients.
Smedberg M, Rooyackers O, Norberg Å, Tjäder I, Wernerman J. Smedberg M, et al. Clin Nutr ESPEN. 2020 Dec;40:226-230. doi: 10.1016/j.clnesp.2020.09.015. Epub 2020 Oct 7. Clin Nutr ESPEN. 2020. PMID: 33183541 Free article.
However, it is still unclear whether there is a causal relation between hypo- and hyperglutaminemia and outcomes. Present guidelines advise against supplementation, although there is no evidence available for patients with hypoglutaminemia. ...Therefore, the aim of this st …
However, it is still unclear whether there is a causal relation between hypo- and hyperglutaminemia and outcomes. Present guidelines …
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Abd Latif K, Hock NL. Ali EZ, et al. Eur J Pediatr. 2016 Mar;175(3):339-46. doi: 10.1007/s00431-015-2644-z. Epub 2015 Oct 6. Eur J Pediatr. 2016. PMID: 26440671
All the patients have neonatal-onset symptoms, initially diagnosed as infections before hyperammonemia was recognized. They have typical biochemical findings of hyperglutaminemia, hypocitrullinemia, and low to normal urinary excretion of orotate. ...Five mutations were mis …
All the patients have neonatal-onset symptoms, initially diagnosed as infections before hyperammonemia was recognized. They have typical bio …
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. Lee B, et al. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8021-6. doi: 10.1073/pnas.140082197. Proc Natl Acad Sci U S A. 2000. PMID: 10869432 Free PMC article.
Urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often life-threatening hyperammonemia and hyperglutaminemia. Clinical and laboratory diagnosis of partial deficiencies during asymptomatic periods is difficult, and correlation of phenot …
Urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often life-threatening hyperammonemia and hyperglu …
Long-term treatment of girls with ornithine transcarbamylase deficiency.
Maestri NE, Brusilow SW, Clissold DB, Bassett SS. Maestri NE, et al. N Engl J Med. 1996 Sep 19;335(12):855-9. doi: 10.1056/NEJM199609193351204. N Engl J Med. 1996. PMID: 8778603 Free article. Clinical Trial.
A deficiency of this enzyme leads to hyperammonemia and hyperglutaminemia. In boys the disease is often fatal when its onset occurs during the neonatal period, but it is milder when onset occurs later in childhood. ...Although the mean IQ before treatment was in the low av …
A deficiency of this enzyme leads to hyperammonemia and hyperglutaminemia. In boys the disease is often fatal when its onset occurs d …
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979
These disorders often result in life-threatening hyperammonemia and hyperglutaminemia. A combination of sodium phenylbutyrate and sodium phenylacetate/benzoate is used in the clinical management of children with urea cycle defects as a glutamine trap, diverting nitrogen fr …
These disorders often result in life-threatening hyperammonemia and hyperglutaminemia. A combination of sodium phenylbutyrate and sod …