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©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jun 21, 2015; 21(23): 7331-7334
Published online Jun 21, 2015. doi: 10.3748/wjg.v21.i23.7331
Published online Jun 21, 2015. doi: 10.3748/wjg.v21.i23.7331
Citrin deficiency presenting as acute liver failure in an eight-month-old infant
Mei-Hong Zhang, Jing-Yu Gong, Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai 201508, China
Jian-She Wang, Department of Pediatrics, Shanghai Medical College, Fudan University, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Author contributions: Zhang MH and Gong JY contributed equally to drafting and revision of the manuscript; Wang JS contributed to the paper design and supervised the manuscript preparation; all authors contributed to the patient management and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 813111071; and Key projects of Shanghai Municipal Health Bureau, No. 2013-27.
Ethics approval: Genetic tests were approved by the Ethics Committee on human research of the Jinshan Hospital of Fudan University.
Informed consent: The patient’s parents provided informed written consent prior to study enrollment.
Conflict-of-interest: The authors declare no conflicts of interest.
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: Jian-She Wang, Professor, Department of Pediatrics, Shanghai Medical College, Fudan University, The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, No. 399 Wanyuan Road, Minhang District, Shanghai 201102, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-64931901
Received: November 5, 2014
Peer-review started: November 7, 2014
First decision: January 8, 2015
Revised: February 10, 2015
Accepted: March 12, 2015
Article in press: March 12, 2015
Published online: June 21, 2015
Processing time: 226 Days and 22.9 Hours
Peer-review started: November 7, 2014
First decision: January 8, 2015
Revised: February 10, 2015
Accepted: March 12, 2015
Article in press: March 12, 2015
Published online: June 21, 2015
Processing time: 226 Days and 22.9 Hours
Core Tip
Core tip: Citrin deficiency typically presents as neonatal intrahepatic cholestasis in early infancy and resolves spontaneously in late infancy. However, this case report demonstrates that citrin deficiency can also present as acute liver failure triggered by infection in apparently healthy late infancy. Thus, citrin deficiency should be considered in cases of acute liver failure in older infants. Dietary therapy may be ineffective, necessitating liver transplantation in such circumstances.