Hepatology 2019-Dec
OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.
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Abstrè
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.