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Deficiency of 3β-hydroxy-Δ 5 -C 27 -steroid oxidoreductase (HSD3B7), an enzyme catalyzing the second step in the pathway for bile acid synthesis, leads to a complete lack of the primary bile acids, cholic and chenodeoxycholic acids, and the accumulation of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-Δ 5 -cholenoic acids. Patients affected by this autosomal recessive genetic defect...
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