Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis
Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M. Vaz, Bassam Abu‐Libdeh, Saul J. Karpen, Paul A. Dawson – 12 September 2017 – 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‐dependent bile acid transporter (ASBT; SLC10A2) can cause primary bile acid malabsorption but do not appear to account for most familial cases.