Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2021; 9(26): 7923-7929
Published online Sep 16, 2021. doi: 10.12998/wjcc.v9.i26.7923
Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report
Shou-Hao Wang, Tian-Chen Hui, Zhe-Wen Zhou, Cheng-An Xu, Wen-Hao Wu, Qing-Qing Wu, Wei Zheng, Qiao-Qiao Yin, Hong-Ying Pan
Shou-Hao Wang, Zhejiang Provincial People’s Hospital, Qingdao University, Hangzhou 310014, Zhejiang Province, China
Shou-Hao Wang, Tian-Chen Hui, Zhe-Wen Zhou, Cheng-An Xu, Wen-Hao Wu, Qing-Qing Wu, Wei Zheng, Qiao-Qiao Yin, Hong-Ying Pan, Department of Infectious Diseases, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou 310014, Zhejiang Province, China
Author contributions: Wang SH and Hui TC collected primary data, searched the literature and drafted the manuscript; Zhou ZW searched the literature and drafted the manuscript; Xu CA and Wu WH analyzed and explained genetics; Wu QQ and Yin QQ contributed to reviewing the manuscript, data analysis and preparation of tables; Zheng W and Pan HY were responsible for the revision of the manuscript for important intellectual content; all authors have read and approve the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report, data and accompanying images.
Conflict-of-interest statement: The authors declare that they do not have any commercial or associative 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong-Ying Pan, MM, Chief Doctor, Department of Infectious Diseases, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, No. 158 Shangtang Road, Hangzhou 310014, Zhejiang Province, China. hypanzjsrmyy@126.com
Received: April 22, 2021
Peer-review started: April 22, 2021
First decision: May 24, 2021
Revised: May 27, 2021
Accepted: July 19, 2021
Article in press: July 19, 2021
Published online: September 16, 2021
Processing time: 140 Days and 22.6 Hours
Core Tip

Core Tip: Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase gene mutation. This is the first report of an adult patient with liver disease and fat-soluble vitamin deficiency. The patient had significantly improved prognosis after treatment. In adult patients with recurrent liver function abnormalities, physicians should be alert to the possibility of genetic disorders, which can be diagnosed by genetic testing or, if possible, combined with mass spectrometry.