https://www.ncbi.nlm.nih.gov/pubmed/31863603 Cholestasis

Hepatology. 2019 Dec 21. doi: 10.1002/hep.31087. [Epub ahead of print]
OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.

Gao E1, Cheema H2, Waheed N2, Mushtaq I2, Erden N1, Nelson-Williams C3, Jain D1,4, Soroka CJ1, Boyer JL1, Khalil Y5, Clayton PT5, Mistry PK1,6, Lifton RP3,7,8, Vilarinho S1,4.

Abstract
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.

Published on: 
Dec-2019

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