Wang SH, Hui TC, Zhou ZW, Xu CA, Wu WH, Wu QQ, Zheng W, Yin QQ, Pan HY. Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report. World J Clin Cases 2021; 9(26): 7923-7929 [PMID: 34621847 DOI: 10.12998/wjcc.v9.i26.7923]
Corresponding Author of This Article
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
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/
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
Abstract
BACKGROUND
Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase (AMACR) gene mutation. The disease is usually found in children with mild to severe liver disease, cholestasis and poor fat-soluble vitamin absorption. At present, there is no report of inborn errors of bile acid synthesis type 4 in adults with liver disease and poor fat-soluble vitamin absorption.
CASE SUMMARY
A 71-year-old man was hospitalized in our department for recurrent liver dysfunction. The clinical manifestations were chronic liver disease and yellow skin and sclera. Serum transaminase, bilirubin and bile acid were abnormally increased; and fat-soluble vitamins decreased. Liver cirrhosis and ascites were diagnosed by computed tomography. The patient had poor coagulation function and ascites and did not undergo liver puncture. Genetic testing showed AMACR gene missense mutation. The patient was diagnosed with inborn error of bile acid synthesis type 4. He was treated with ursodeoxycholic acid, liver protection and vitamin supplementation, and jaundice of the skin and sclera was reduced. The indicators of liver function and the quality of life were significantly improved.
CONCLUSION
When adults have recurrent liver function abnormalities, physicians should be alert to genetic diseases and provide timely treatment.
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.
