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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Frontiers Media S.A.,
2024-06-01T00:00:00Z.
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| 001 | doaj_a6b5fb9bc72348e7aacdf1fdb40e243e | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a S. Majait |e author |
| 700 | 1 | 0 | |a F. M. Vaz |e author |
| 700 | 1 | 0 | |a F. M. Vaz |e author |
| 700 | 1 | 0 | |a F. M. Vaz |e author |
| 700 | 1 | 0 | |a E. Marleen Kemper |e author |
| 700 | 1 | 0 | |a A. H. Bootsma |e author |
| 700 | 1 | 0 | |a A. K. Groen |e author |
| 700 | 1 | 0 | |a M. Nieuwdorp |e author |
| 700 | 1 | 0 | |a Maarten R. Soeters |e author |
| 245 | 0 | 0 | |a Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C27-steroid-oxidoreductase: a case report |
| 260 | |b Frontiers Media S.A., |c 2024-06-01T00:00:00Z. | ||
| 500 | |a 2296-2360 | ||
| 500 | |a 10.3389/fped.2024.1418963 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a 3β-HSD | ||
| 690 | |a bile acid defect | ||
| 690 | |a glycine-conjugated deoxycholic acid | ||
| 690 | |a FXR ligand | ||
| 690 | |a postprandial | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Frontiers in Pediatrics, Vol 12 (2024) | |
| 787 | 0 | |n https://www.frontiersin.org/articles/10.3389/fped.2024.1418963/full | |
| 787 | 0 | |n https://doaj.org/toc/2296-2360 | |
| 856 | 4 | 1 | |u https://doaj.org/article/a6b5fb9bc72348e7aacdf1fdb40e243e |z Connect to this object online. |