Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Nov 28, 2017; 23(44): 7930-7938
Published online Nov 28, 2017. doi: 10.3748/wjg.v23.i44.7930
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis
Ivan Ivanovski, Miloš Ješić, Ana Ivanovski, Livia Garavelli, Petar Ivanovski
Ivan Ivanovski, Livia Garavelli, Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy
Ivan Ivanovski, Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, 41121 Modena, Italy
Miloš Ješić, Petar Ivanovski, School of Medicine University of Belgrade, Belgrade 11000, Serbia
Miloš Ješić, Petar Ivanovski, University Children’s Hospital, Belgrade 11000, Serbia
Ana Ivanovski, Faculty of Chemistry University of Belgrade, Belgrade 11000, Serbia
Author contributions: All authors equally contributed to the acquisition of data, writing, and revision of this manuscript.
Informed consent statement: The patient died, no consent obtained.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Dr. Petar Ivanovski, School of Medicine University of Belgrade, Belgrade 11000, Serbia. petar.ivanovski@udk.bg.ac.rs
Telephone: +381-11-2060666 Fax: +381-11-2684672
Received: February 7, 2017
Peer-review started: February 9, 2017
First decision: April 17, 2017
Revised: May 15, 2017
Accepted: June 18, 2017
Article in press: June 18, 2017
Published online: November 28, 2017
Processing time: 292 Days and 9.6 Hours
Core Tip

Core tip: Underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. We hypothesize that the key is deficient fumaric acid production in urea cycle in UCDs, which causes several sequentially intertwined metabolic disturbances with the final result of liver iron overload. Providing the hypothesis is correct, neonatal liver damage in patients having UCD can be prevented by the supplementation of pregnant women with fumaric or succinic acid, prepared in the form of iron supplementation pills. After birth, liver damage in patients having UCDs can be prevented by supplementation of these patients with zinc fumarate or zinc succinylate.