Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis Inclusion criteria for enrollment were: * Infants \< age 3 months * Children presenting for evaluation of cholestasis defined as a conjugated bilirubin \> 2mg/dl or increased serum bile acids * Older subjects of any age with cholestatic liver disease if urine screens suggested that they had inborn errors of bile acid metabolism * Confirmation of a diagnosis of an inborn error of bile acid synthesis based upon urine analysis by FAB-MS to determine whether specific abnormalities in bile acid synthesis are indicated * The patient and/or parent/legal guardian must have signed the written informed consent document before study start. * The patient must be willing and able to comply with all study assessments and procedures.