Glycodeoxycholic acid as alternative treatment in 3ß-hydroxy-Δ5-C27-steroid-oxidoreductase: a case report.
Front Pediatr
; 12: 1418963, 2024.
Article
en En
| MEDLINE
| ID: mdl-39005507
ABSTRACT
Background:
3ß-hydroxy-Δ5-C27-steroid-oxidoreductase (3ß-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 3ß-HSD-deficiency and its symptoms.Methods:
This report details the case of a 28-year-old woman diagnosed with 3ß-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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Front Pediatr
Año:
2024
Tipo del documento:
Article
País de afiliación:
Países Bajos