Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology

Abstract excerpt

UNLABELLED: The most common inborn error of bile acid metabolism is 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (3β-HSD) deficiency, a disorder that usually presents in early childhood with hepatic dysfunction. Timely diagnosis of this disorder is crucial because it can be effectively treated with primary bile acid replacement. Here we describe a 24-year-old woman from Iran with cirrhosis of unknown etiology....

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