Urea cycle disorders, Arginine Chloride in the treatment of hyperammonemia

Czech version

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.

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Article was published in

Clinical Biochemistry and Metabolism

2021 Issue 4