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Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C27-steroid-oxidoreductase: a case report
S Majait1, F M Vaz2,3,4, E Marleen Kemper5
1Department of Pharmacy and Clinical Pharmacology, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
3β-hydroxy-Δ5-C27-steroid-oxidoreductase (3β-HSD) deficiency is a rare bile acid disorder. Glycine-conjugated deoxycholic acid (gDCA) treatment normalized bile acid levels and improved fat absorption in a patient.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- 3β-hydroxy-Δ5-C27-steroid-oxidoreductase (3β-HSD) deficiency is a rare genetic disorder impacting bile acid synthesis.
- This condition leads to the absence of primary bile acids, accumulation of abnormal bile acids, cholestatic jaundice, and failure to thrive.
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