Orphacol is indicated for the treatment of inborn errors in primary bile acid synthesis due to 3β-Hydroxy-Δ5-C27-steroid oxidoreductase deficiency or Δ4-3-Oxosteroid-5β-reductase deficiency in infants, children and adolescents aged 1 month to 18 years and adults.
The concentrations of the abnormal bile acid metabolites synthesised in 3β-Hydroxy-Δ5-C27-steroid oxidoreductase deficiency (3β, 7α-dihydroxy- and 3β, 7α, 12α-trihydroxy-5-cholenoic acids) or in Δ4-3-Oxosteroid-5β-reductase deficiency (3-oxo-7α-hydroxy- and 3-oxo-7α, 12α-dihydroxy-4-cholenoic acids) should be determined.
5. PHARMACOLOGICAL PROPERTIES
5.1 Pharmacodynamic properties
In patients with inborn deficiency of 3β-Hydroxy-Δ5-C27-steroid oxidoreductase and Δ4-3-Oxosteroid-5β-reductase, the biosynthesis of primary bile acids is reduced or absent.
Overall, cholic acid treatment results for about 60 patients with 3β-Hydroxy-Δ5-C27-steroid oxidoreductase deficiency are reported in the literature.Cholic acid reatment results for seven patients with Δ4-3-Oxosteroid-5β-reductase deficiency for up to 14 years are reported in the literature.
오르파콜(Orphacol)은 1월령~18세 사이의 영유아, 소아청소년 및 성인에서 3β-하이드록시-Δ5-C27-스테로이드 산화환원효소(3β-Hydroxy-Δ5-C27-steroid oxidoreductase) 결핍 또는 Δ4-3- 옥소스테로이드-5β-5β-환원효소(Δ4-3-Oxosteroid-5β-reductase) 결핍으로 인한 원발성 담즙산 합성의 선천적 이상 질환의 치료에 사용된다.