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Copyright ©2009 The WJG Press and Baishideng.
World J Gastroenterol. Feb 21, 2009; 15(7): 804-816
Published online Feb 21, 2009. doi: 10.3748/wjg.15.804
Table 1 Minimum and maximum values of CMC in water at 37°C (in mmol/L) for the sodium salts of major bile acids
Bile acidMinimum CMCMaximum CMC
Cholic acid2.529.3
Deoxycholic acid0.870
Chenodeoxycholic acid3.030
Taurocholic acid1.512
Taurodeoxycholic acid0.612
Taurochenodeoxycholic acid1.258
Table 2 Inborn defects in bile acid synthesis and biotransformation
Impaired processDefect localizationConsequences
Sterol ring modificationCholesterol 7α-hydroxylase (CYP7A1)Increased hepatic cholesterol. In adults, LDL hypercholesterolemia and cholesterol gallstones
Oxysterol 7α-hydroxylase (CYP7B1)Accumulation of monohydroxyl bile acid species with marked cholestatic and hepatotoxic capabilities. Severe neonatal liver disease
3β-Hydroxy-C27-steroid dehydrogenase/somerase (HSD3B7)Cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins
δ-4-3-Oxosteroid 5β-reductase (AKR1D1)Accumulation of δ-4-3-oxo- and allo(5α-H)-bile acids. Liver disease rapidly progressing to liver failure
Side-chain modification27-Hydroxylase (CYP27A1)Cerebrotendinous xanthomatosis
25-Hydroxylase (CH25H)Low levels of primary bile acids in serum and increased urinary excretion of typical bile alcohols
α-Methylacyl-CoA racemase (AMACR)High concentrations of (25R) trihydroxy-cholestanoic acid in urine, bile, and serum
Complete or partial absence of peroxisomesZellweger syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Hyperpipecolic acidemia
Altered peroxisomal enzymesPseudo-Zellweger syndrome
Pseudo-neonatal adrenoleukodystrophy
X-linked adrenoleukodystrophy
Bile acid amidationBile acid acyltransferase (BAAT)Absence of taurine or glycine conjugates. Enhanced proportion of sulfate and glucuronide conjugates
Bile acid-CoA ligase?Absence of taurine or glycine conjugates. Enhanced proportion of sulfate and glucuronide conjugates