Abstract
Bailer’s disease is an ultra-rare (orphan) pathology associated with a deficiency of the membrane enzyme responsible for the transport of fat-soluble compounds and bile acids through the tubular membrane of the hepatocyte, as a result of which they accumulate in liver cells and have a damaging effect on them, being triggering factors of apoptosis. A clinical case of diagnosis of progressive familial cholestasis in a child aged 2 months with genetic verification of the diagnosis and successful treatment, including liver transplantation, is presented. Two mutations in the heterozygous state were identified: the previously described pathogenic mutation CM033442 and a previously undescribed mutation in the PGM1 gene.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
