familial hypercholanaemia

familial hypercholanaemia

A disorder (OMIM:607748) characterised by elevated serum bile acid concentrations, pruritus, and fat malabsorption.

Molecular pathology
Caused by defects of
• TJP2, which encodes tight junction protein 2;
• BAAT, which encodes an enzyme involved in bile acid-amino acid conjugate formation; and
• EPHX1, which encodes epoxide hydrolase-1, a biotransformation enzyme.
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