primary bile acid malabsorption

(redirected from PBAM)
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primary bile acid malabsorption

A primary congenital disorder (OMIM:613291) characterised by diarrhoea, steatorrhoea, interruption of the enterohepatic circulation of bile acids and reduced serum cholesterol.

Molecular pathology
Caused by defects of SLC10A2, which encodes an ileal-specific sodium/bile acid cotransporter that plays a key role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine, as well as in cholesterol metabolism.