Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis.

Abstract excerpt

BACKGROUND: An increasing number of treatable inborn errors of bile acid synthesis have been described, primarily in infants with severe cholestatic liver disease. RESULTS: The present patient, whose two older siblings had died from progressive cholestatic liver disease, developed neonatal cholestasis and rickets but recovered during the childhood years and follow-up was terminated at 12 years of age. The patient...

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