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


Los ácidos biliares primarios normalmente son producidos por el hígado. Ciertas condiciones médicas son causadas por defectos en la producción de estos ácidos biliares. Estas son enfermedades genéticas extremadamente raras con las que nacen los pacientes y que actualmente no se pueden curar. Sin embargo, existen tratamientos eficaces para algunos de estos errores innatos en la síntesis primaria de ácidos biliares.

Este sitio web es un recurso para los profesionales de la salud sobre dos tipos de errores innatos en la síntesis primaria de ácidos biliares:

- Deficiencia de 3ß-hydroxi-Δ⁵-C₂₇-esteroide oxidorreductasa [3ß-HSD] (también conocida como deficiencia de 3ß-hydroxi-Δ⁵-C₂₇-esteroide deshidrogenasa/isomerasa)
- Deficiencia de Δ⁴-3-oxosteroide-5ß-reductasa [Δ⁴-3-oxoR] (también conocida como deficiencia de 5ß-reductasa o deficiencia de Δ⁴-3-cetoesteroide-5ß-reductasa)

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.
Registered for Orphacol^®
Legal Mentions