A new syndrome of bile acid deficiency-a possible synthetic defect

A 3-month-old infant with chronic diarrhea, failure to thrive, and severe malabsorption of fat (50 per cent) was found to have low concentrations of bile acids in the duodenal fluid, with poor micellar incorporation of fatty acids. The deficiency of intraluminal bile acids was not due to (1) liver disease, (2) deconjugation of bile acids associated with bacterial overgrowth, (3) failure of intestinal reabsorption of bile acids, (4) failure of release of cholecystokinin, or (5) an excretion defect of bile acids. A trial of oral administration of bile acids produced increases in weight gain, absorption of fat, intraluminal micellar incorporation, and concentrations of intestinal bile acids. All of these returned to pretreatment values within a few days after discontinuance of administration of bile acids. A defect in the biosynthesis of bile acids, not secondary to liver disease, is suggested.