Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C

Background

3β-hydroxy-Δ5-C27-steroid-oxidoreductase (3β-HSD) deficiency is a bile acid synthesis disorder that leads to the absence of normal primary bile acids and the accumulation of abnormal bile acids. This results in cholestatic jaundice, fat-soluble vitamin deficiency, acholic or fatty stools and failure to thrive. Bile acid supplementation is used to treat 3β-HSD-deficiency and its symptoms.

Methods

This report details the case of a 28-year-old woman diagnosed with 3β-HSD-deficiency, who was treated with glycine-conjugated deoxycholic acid (gDCA).

Results

gDCA treatment successfully restored normal bile acid levels, improved body weight by reducing fat malabsorption, and was well-tolerated with no observed liver problems or side effects.

Conclusions

As a potent FXR ligand, gDCA might exert its action through FXR activation leading to bile acid synthesis regulation.

Informations de copyright

© 2024 Majait, Vaz, Kemper, Bootsma, Groen, Nieuwdorp and Soeters.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.