Deficiencies in 3β-hydroxy-Δ5-C27-steroid oxidoreductase (3β-HSD) and Δ4-3-oxosteroid 5β-reductase (Δ4-3-oxoR) are part of a group of diseases called bile acid synthesis disorders (BASD). Diagnosed in most cases in young children, they are very rare diseases of the liver: 1.13 cases per 10 million people.
These two inherited autosomal recessive diseases lead to toxic intermediates accumulating in the liver causing its deterioration. Early diagnosis is therefore essential because if they are not treated, they can lead to liver cirrhosis, liver transplantation or even death of the patient.

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