Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment

We encountered 7 Japanese patients with bile acid synthesis disorders (BASD) including 3?-hydroxy-?5-C27-steroid dehydrogenase/isomerase (3?-HSD) deficiency (n = 3), ?4-3-oxosteroid 5?-reductase (5?-reductase) and oxysterol 7?-hydroxylase 1) over 21 years between 1996 2017. aimed to clarify long-term outcome in the BASD as well efficacy of chenodeoxycholic (CDCA) treatment 5 3?-HSD or deficiency. Diagnoses were made from genetic analyses. Bile analysis serum urine was performed using gas chromatography–mass spectrometry. Clinical laboratory findings profiles at diagnosis most recent visit retrospectively obtained medical records. Long-term included follow-up duration, treatments, growth, education/employment, complications treatment, other problems. Medians ranges current patient ages duration CDCA are 10 (8 43) 21), respectively. All patients, who had homozygous compound heterozygous mutations HSD3B7, SRD5B1, CYP7B1 gene, currently good health without liver dysfunction. In hepatic function gradually improved following initiation. No adverse effects noted. concluded that is effective deficiency, cholic has been countries. carry a prognosis early initiation treatment.