Editorial
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 7, 2017; 23(29): 5257-5265
Published online Aug 7, 2017. doi: 10.3748/wjg.v23.i29.5257
Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls
Gaetano Corso, Antonio Dello Russo, Monica Gelzo
Gaetano Corso, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy
Antonio Dello Russo, Monica Gelzo, Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Author contributions: Corso G and Gelzo M have substantially contributed to conception and design of the study and writing the manuscript; Dello Russo A has contributed to the critical discussion of the manuscript.
Conflict-of-interest statement: The authors declare no conflict of interest related to this publication.
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: Monica Gelzo, PhD, Researcher, Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy. monicagelzo@gmail.com
Telephone: +39-81-7463653 Fax: +39-81-7463653
Received: March 18, 2017
Peer-review started: March 21, 2017
First decision: April 26, 2017
Revised: May 1, 2017
Accepted: July 4, 2017
Article in press: July 4, 2017
Published online: August 7, 2017
Processing time: 142 Days and 7.9 Hours
Core Tip

Core tip: The genetic defects of cholesterol and bile acid biosynthesis are characterized by a diversity of clinical findings affecting the liver, the intestine, and the nervous system. Many of these defects are efficaciously treatable but owing to mild phenotypes many cases can escape to an earlier diagnosis and are identified after few years or adulthood with irreversible injuries or more difficult to treat. Here, we highlighted simple clinical and laboratory descriptions that can potentially make you to suspect a defect in cholesterol biosynthesis and/or bile acids, in order to reduce the diagnostic delay and to improve the prognosis of these defects.