Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Apr 7, 2015; 21(13): 4063-4068
Published online Apr 7, 2015. doi: 10.3748/wjg.v21.i13.4063
Urea cycle disorders: A case report of a successful treatment with liver transplant and a literature review
Francesco Giuseppe Foschi, Maria Cristina Morelli, Sara Savini, Anna Chiara Dall’Aglio, Arianna Lanzi, Matteo Cescon, Giorgio Ercolani, Alessandro Cucchetti, Antonio Daniele Pinna, Giuseppe Francesco Stefanini
Francesco Giuseppe Foschi, Sara Savini, Anna Chiara Dall’Aglio, Arianna Lanzi, Giuseppe Francesco Stefanini, U.O. Medicina Interna, Ospedale di Faenza, 48018 Faenza, Italy
Maria Cristina Morelli, Matteo Cescon, Giorgio Ercolani, Alessandro Cucchetti, Antonio Daniele Pinna, U.O. Chirurgia Generale e dei Trapianti, Policlinico-S.Orsola-Malpighi, Università di Bologna, 40138 Bologna, Italy
Author contributions: Foschi FG and Stefanini GF designed the report; Foschi FG, Morelli MC, Cescon M, Ercolani G, Cucchetti A and Pinna AD treated the patient and collected the patient’s clinical data; Foschi FG, Savini S, Dall’Aglio AC, Lanzi A and Stefanini GF reviewed the literature and wrote the paper.
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: Francesco Giuseppe Foschi, MD, U.O. Medicina Interna, Ospedale di Faenza, Viale Stradone n°9, 48018 Faenza, Italy. fg.foschi@ausl.ra.it
Telephone: +39-546-601386 Fax: +39-546-601651
Received: August 12, 2014
Peer-review started: August 12, 2014
First decision: August 27, 2014
Revised: October 4, 2014
Accepted: October 20, 2014
Article in press: October 21, 2014
Published online: April 7, 2015
Processing time: 238 Days and 16.2 Hours
Abstract

The urea cycle is the final pathway for nitrogen metabolism. Urea cycle disorders (UCDs) include a variety of genetic defects, which lead to inefficient urea synthesis. Elevated blood ammonium level is usually dominant in the clinical pattern and the primary manifestations affect the central nervous system. Herein, we report the case of a 17-year-old girl who was diagnosed with UCD at the age of 3. Despite a controlled diet, she was hospitalized several times for acute attacks with recurrent life risk. She came to our attention for a hyperammonemic episode. We proposed an orthotopic liver transplant (OLT) as a treatment; the patient and her family were in complete agreement. On February 28, 2007, she successfully received a transplant. Following the surgery, she has remained well, and she is currently leading a normal life. Usually for UCDs diet plays the primary therapeutic role, while OLT is often considered as a last resort. Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment.

Keywords: Urea cycle disorders; Hyperammonemia; Diet; Liver transplantation; Quality of life

Core tip: Urea cycle disorders (UCDs) include a variety of genetic defects which lead to inefficient urea-synthesis with hyperammonemia. The liver is the main site of urea cycle’s enzymatic activity. Diet has traditionally been the primary therapy; orthotopic liver transplantation (OLT) is often considered as a last resort. This case report presents a 17-year-old girl with UCD who was successfully treated with OLT. Her recovery and a recent literature review support OLT as a primary intervention for UCDs patients to prevent life-threatening acute episodes and chronic mental impairment, with an approximately 90% survival rate and a better quality of life.