The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders.

[neonatal adrenoleukodystrophy]

We have measured the bile acids in human serum as methyl ester -trimethylsilyl ethers by gas chromatography-mass spectrometry (GC -MS ) using an electron ionization procedure . The overall method was validated and the detection limit (0 .4 mumol /l ), linearity (2 -30 mumol /l ), intra-day and inter-day precision , accuracy and recovery (96 .2 % for nor-23 -deoxycholic acid as internal standard ) were measured . Serum C 2 4 -bile acids profiles from 43 cholestatic patients were measured by GC -MS and by HPLC . The results obtained with the two methods were well correlated and the criteria for selecting either HPLC or GC -MS identified . The serum C 2 4 - and C 2 7 -bile acids and C 2 9 dicarboxylic bile acid profiles for patients with generalized peroxisomal deficiencies , like Zellweger syndrome (n = 5 ), neonatal adrenoleukodystrophy (n = 1 ), infantile Refsum disease (n = 2 ) and from a single peroxisomal deficiency (n = 1 ) were also measured by GC -MS .