Brief Article
Copyright ©2012 Baishideng Publishing Group Co.
World J Gastroenterol. Mar 14, 2012; 18(10): 1067-1076
Published online Mar 14, 2012. doi: 10.3748/wjg.v18.i10.1067
Table 1 Reference ranges of bile acid metabolites which accumulate in different bile acid biosynthesis defects
DefectMetabolitem/zMedianRange
3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiencyGlyco-dihydroxy-5-cholenoic acid5260.050.0-0.9
HSD3B7Glyco-trihydroxy-5-cholenoic acid5420.070.0-0.4
16p11.2-12Dihydroxy-5-cholenoic acid sulphate4690.710.15-8.1
OMIM: 23110Trihydroxy-5-cholenoic acid sulphate4850.080.0-2.0
Δ4-3-oxosteroid 5-β-reductase deficiencyGlyco-hydroxy-oxo-cholenoic acid4440.030.0-0.4
AKR1D1Glyco-dihydroxy-oxo-cholenoic acid4600.040.0-2.4
7q31Tauro-hydroxy-oxo-cholenoic acid4940.020.0-0.5
OMIM: 235555Tauro-dihydroxy-oxo-cholenoic acid5100.040.0-5.0
Defects of peroxisomal biogenesisTauro-tri-hydroxycholestanoic acid5560.020.0-0.3
MultipleTauro-tetra-hydroxycholestanoic acid5720.020.0-0.2
OMIM: 214100
Sterol 27-hydroxylase deficiencyGlucuronide-5β-cholestane-tetrol6110.240.0-1.6
(cerebrotendinous xanthomatosis)Glucuronide-5β-cholestane-pentol6270.370.1-4.3
CYP27A1
2q33-qter
OMIM: 213700
Cholestatic liver diseaseGlyco-chenodeoxy-cholic acid4480.490.0-5.2
MultipleGlyco-cholic acid4640.640.1-14.6
Tauro-chenodeoxy-cholic acid4980.050.0-0.8
Tauro-cholic acid5140.080.0-8.4