Inborn errors in primary bile acid synthesis



Primary bile acids are normally produced by the liver. Certain medical conditions are caused by defects in the production of these bile acids. These are extremely rare genetic diseases that patients are born with, and currently cannot be cured. However, effective treatments for some of these inborn errors in primary bile acid synthesis exist.


This web site is a resource for Health Care Professionals for two types of inborn errors in primary bile acid synthesis:


- 3ß-hydroxy-Δ5-C27-steroid oxidoreductase deficiency [3ß-HSD] (also known as 3ß-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency)


- Δ4-3-oxosteroid-5ß-reductase deficiency [&Delta4-3-oxoR] (also known as 5ß-reductase deficiency or Δ4-3-ketosteroid-5ß-reductase deficiency)


This medicinal product is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions.
ORPHACOL®
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not solely be used as a basis for diagnosis or treatment.
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