Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C27-steroid-oxidoreductase: a case report

Background3β-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 a...

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Main Authors: S. Majait (Author), F. M. Vaz (Author), E. Marleen Kemper (Author), A. H. Bootsma (Author), A. K. Groen (Author), M. Nieuwdorp (Author), Maarten R. Soeters (Author)
Format: Book
Published: Frontiers Media S.A., 2024-06-01T00:00:00Z.
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Summary:Background3β-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.MethodsThis report details the case of a 28-year-old woman diagnosed with 3β-HSD-deficiency, who was treated with glycine-conjugated deoxycholic acid (gDCA).ResultsgDCA 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.ConclusionsAs a potent FXR ligand, gDCA might exert its action through FXR activation leading to bile acid synthesis regulation.
Item Description:2296-2360
10.3389/fped.2024.1418963