OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.

SLC51A encodes the alpha subunit of the heteromeric organic solute transporter alpha-beta (OSTα-OSTβ), an important contributor to intestinal bile acid (BA) reabsorption in the enterohepatic circulation(1,2). Here, we identified the first case of OSTα deficiency in a child with unexplained elevated liver transaminases, cholestasis and congenital diarrhea.