Zhang MH, Gong JY, Wang JS. Citrin deficiency presenting as acute liver failure in an eight-month-old infant. World J Gastroenterol 2015; 21(23): 7331-7334 [PMID: 26109823 DOI: 10.3748/wjg.v21.i23.7331]
Corresponding Author of This Article
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
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Gastroenterol. Jun 21, 2015; 21(23): 7331-7334 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, Jian-She Wang
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
Abstract
Citrin deficiency typically presents as neonatal intrahepatic cholestasis and resolves in late infancy. Here we report a case of citrin deficiency that presented as acute liver failure in late infancy in an apparently healthy child. The full-term male infant weighed 3400 g at birth, and exhibited normal development for eight months, at which time he contracted bronchial pneumonia. The infant developed jaundice and laboratory tests indicated elevated bilirubin and ammonia levels and an abnormal coagulation profile. Plasma amino acid analysis showed elevated levels of tyrosine, methionine, citrulline, and arginine. Citrin deficiency was suspected, and genomic DNA analysis revealed a mutation (IVS16ins3kb) in SLC25A13, which encodes a mitochondrial aspartate-glutamate carrier protein. The infant was immediately put on a lactose-free, medium-chain-triglyceride-enriched formula with ursodeoxycholic acid and lipid-soluble vitamins. However, cholestasis and abnormal laboratory indices persisted, and the infant died at the age of 11.5 mo, two days before a scheduled liver transplantation. This case demonstrates that citrin deficiency can present in late infancy as acute liver failure triggered by infection, and may require liver transplantation.
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.
