{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:52:25Z","timestamp":1790661145141,"version":"4.1.0"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2018,5,11]],"date-time":"2018-05-11T00:00:00Z","timestamp":1525996800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,5,11]],"date-time":"2018-05-11T00:00:00Z","timestamp":1525996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Hepatology"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Primary bile acid malabsorption is associated with congenital diarrhea, steatorrhea, and a block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal apical sodium\u2010dependent bile acid transporter (ASBT; <jats:italic toggle=\"yes\">SLC10A2<\/jats:italic>) can cause primary bile acid malabsorption but do not appear to account for most familial cases. Another major transporter involved in the intestinal reclamation of bile acids is the heteromeric organic solute transporter alpha\u2010beta (OST\u03b1\u2010OST\u03b2; <jats:italic toggle=\"yes\">SLC51A<\/jats:italic>\u2010<jats:italic toggle=\"yes\">SLC51B<\/jats:italic>), which exports bile acid across the basolateral membrane. Here we report the first patients with OST\u03b2 deficiency, clinically characterized by chronic diarrhea, severe fat soluble vitamin deficiency, and features of cholestatic liver disease including elevated serum gamma\u2010glutamyltransferase activity. Whole exome sequencing revealed a homozygous single nucleotide deletion in codon 27 of <jats:italic toggle=\"yes\">SLC51B<\/jats:italic>, resulting in a frameshift and premature termination at codon 50. Functional studies in transfected cells showed that the <jats:italic toggle=\"yes\">SLC51B<\/jats:italic> mutation resulted in markedly reduced taurocholic acid uptake activity and reduced expression of the OST\u03b1 partner protein. <jats:italic toggle=\"yes\">Conclusion<\/jats:italic>: The findings identify OST\u03b2 deficiency as a cause of congenital chronic diarrhea with features of cholestatic liver disease. These studies underscore OST\u03b1\u2010OST\u03b2's key role in the enterohepatic circulation of bile acids in humans. (H<jats:sc>epatology<\/jats:sc> 2017).<\/jats:p>","DOI":"10.1002\/hep.29516","type":"journal-article","created":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T17:02:35Z","timestamp":1505235755000},"page":"590-598","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":61,"title":["Organic solute transporter\u2010\u03b2 (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis"],"prefix":"10.1097","volume":"68","author":[{"given":"Mutaz","family":"Sultan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Makassed Hospital,Al\u2010Quds University, Faculty of Medicine,Jerusalem"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuradha","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University School of Medicine,Children's Healthcare of Atlanta,Atlanta,GA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research, Hadassah,Hebrew University Medical Center,Jerusalem,Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric M.","family":"Vaz","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases,Academic Medical Center,Amsterdam,Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam","family":"Abu\u2010Libdeh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Makassed Hospital,Al\u2010Quds University, Faculty of Medicine,Jerusalem"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saul J.","family":"Karpen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University 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