A syndrome of bile acid deficiency- a possible synthetic defect

A 3-month-old in[ant with chronic diarrhea, [ailure to thrive, and severe malabsorption o[ [at (50 per cent) was [ound to have low concentrations o/ bile acids in the duodenal fluid, with poor micellar incorporation o[ [atty acids. The deficiency o[ intraluminal bile acids was not due to (I) liver disease, (2) deconjugation o[ bile acids associated with bacterial overgrowth, (3) [ailure o[ intestinal reabsorption o[ bile acids, (4) /allure o[ release o[ cholecystokinin, or (5) an excretion deject o/bile acids. A trial o/ oral administration o[ bile acids produced increases in weight gain, absorption o~/at, intraluminal micellar incorporation, and concentrations o[ intestinal bile acids. All o[ these returned to pretreatment values within a Jew days alter discontinuance o/ administration o/bile acids. A de/ect in the biosynthesis o[ bile acids, not secondary to liver disease, is suggested.