Fu XH, Hu YH, Liao JX, Chen L, Hu ZQ, Wen JL, Chen SL. Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report. World J Clin Cases 2022; 10(18): 6156-6162 [PMID: PMC9254178 DOI: 10.12998/wjcc.v10.i18.6156]
Corresponding Author of This Article
Shu-Li Chen, PhD, Chief Doctor, Department of Inherited Metabolic Disorders, The Affiliated Hospital of China Medical University and Shenzhen Children’s Hospital, No. 7019 Yitian Road, Futian District, Shenzhen 518038, Guangdong Province, China. 13008803656@163.com
Research Domain of This Article
Genetics & Heredity
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/
Xiao-Hui Fu, Yu-Hui Hu, Shu-Li Chen, Department of Inherited Metabolic Disorders, The Affiliated Hospital of China Medical University and Shenzhen Children’s Hospital, Shenzhen 518038, Guangdong Province, China
Jian-Xiang Liao, Li Chen, Zhan-Qi Hu, Jia-Lun Wen, Department of Neurology, The Affiliated Hospital of China Medical University and Shenzhen Children’s Hospital, Shenzhen 518038, Guangdong Province, China
Author contributions: Hu YH, Liao JX, Chen L, Hu ZQ and Wen JL were responsible for the treatment and management of the patient; Fu XH and Chen SL collected the patient’s clinical data and wrote the paper; all authors were involved in writing the manuscript and read and approved the final manuscript.
Supported bythe Sanming Project of Medicine in Shenzhen, No. SZSM201812005.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shu-Li Chen, PhD, Chief Doctor, Department of Inherited Metabolic Disorders, The Affiliated Hospital of China Medical University and Shenzhen Children’s Hospital, No. 7019 Yitian Road, Futian District, Shenzhen 518038, Guangdong Province, China. 13008803656@163.com
Received: October 28, 2021 Peer-review started: October 28, 2021 First decision: December 27, 2021 Revised: January 10, 2022 Accepted: April 22, 2022 Article in press: April 22, 2022 Published online: June 26, 2022 Processing time: 231 Days and 14.7 Hours
Abstract
BACKGROUND
Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal of treatment is to minimize the neurological damage caused by hyperammonemia. OTCD can be cured by liver transplantation (LT). Post-transplant patients can discontinue anti- hyperammonemia agents and consume a regular diet without the risk of developing hyperammonemia. The neurological damage caused by hyperammonemia is almost irreversible.
CASE SUMMARY
An 11.7-year-old boy presented with headache, vomiting, and altered consciousness. The patient was diagnosed with late-onset OTCD. After nitrogen scavenging treatment and a protein-free diet, ammonia levels were reduced to normal on the third day of admission. Nevertheless, the patient remained in a moderate coma. After discussion, LT was performed. Following LT, the patient’s blood ammonia and biochemical indicators stabilized in the normal range, he regained consciousness, and his nervous system function significantly recovered. Two months after LT, blood amino acids and urine organic acids were normal, and brain magnetic resonance imaging showed a decrease in subcortical lesions.
CONCLUSION
LT can significantly improve partial neurological impairment caused by late-onset OTCD hyperammonemic encephalopathy, and LT can be actively considered when early drug therapy is ineffective.
Core Tip: There are differing views on the timing of liver transplantation (LT) for ornithine transcarbamylase deficiency (OTCD) and whether it makes sense to perform LT in a patient with severe neurological impairment. We report a case of late-onset OTCD with severe neurological impairment, whose nervous system function recovered after LT. In late-onset OTCD patients with severe neurological impairment, LT can be considered.
