Urea cycle disorders, Arginine Chloride in the treatment of hyperammonemia
Authors:
S. Mečířová
Authors‘ workplace:
Klinika pediatrie a dědičných poruch metabolismu (KPDPM) 1. LF UK a VFN v Praze
Published in:
Klin. Biochem. Metab., 29, 2021, No. 4, p. 209-212
Overview
The text presents a short overview of clinical manifestation, diagnostics and therapy of urea cycle disorders, emphasises the role of Arginin chloride in the therapy of hyperammonemia. Two case reports of one of the most frequent type of urea cycle disorders, ornithin transcarbamylase deficiency, are presented at the end.
Keywords:
Urea cycle disorders – OTCD – ornithin transcarbamylase deficiency – arginin chloride
Sources
- Fernandes, J., Saudubray, J. M., Berghe, G., et al. Diagnostika a léčba dědičných metabolických poruch. . vydání. raha, Triton, 2008, . 299-309.
- Zadák, Z. Výživa v intenzivní péči, 2. vydání, Havlíčkův Brod, Grada, 2008, 92, s. 132-135, s. 222-238.
- Papež, J., Honzík, T., Ješina, P., et al. Pozdní manifestace dědičné poruchy metabolismu cyklu močoviny – deficit ornithintranskarbamoylázy, Pediatr. praxi. 2016, 17, č. 1, s. 52–55.
- Brusilow, S. W. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin. Invest., 1984, 74, č. 6, s. 2144-2148. doi: 10.1172/JCI111640. PMID: 6511918; PMCID: PMC425406.
- Honzík, T., Zeman, J. Dědičné poruchy metabolismu v kazuistikách, Mladá fronta, Praha, 2016, s. 8-12, s. 50-55.
- Batshaw, M. L. A longitudinal study of urea cycle disorders. Mol. Genet. Metab. 2014, 113, č. 1-2, s. 127. Epub 2014 Aug 10.
Labels
Clinical biochemistry Nuclear medicine Nutritive therapistArticle was published in
Clinical Biochemistry and Metabolism
2021 Issue 4
Most read in this issue
- Use of serum calprotectin as rutine biomarker of bacterial infection
- Urea cycle disorders, Arginine Chloride in the treatment of hyperammonemia
- Monoklonální gamapatie – stále aktuální téma
- Pleural effusion – cytological-energy analysis versus traditional Light’s criteria