P427: A real-world case of 3β-HSD deficiency, a bile acid synthesis disorder, treated with cholic acid
Abstract
Primary bile acid synthesis disorders (BASDs) are rare inherited autosomal recessive disorders caused by pathogenic variants in genes that code for the enzymes involved in the multi-step pathway that converts cholesterol into the two primary bile acids, cholic acid (CA) and chenodeoxycholic acid (CDCA). This results in inadequate synthesis of bile acids and accumulation of toxic bile acid intermediates. We present a real-world case of an adult patient diagnosed with a BASD related to 3β-HSD deficiency and her subsequent treatment with CA.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Pediatric Hepatobiliary Diseases and Treatments
Sexual Differentiation and Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103921–103921
- Publication date
- 1 January 2026
- Language
- EN