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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 C24-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 C24- and C27-bile acids and C29 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.

clinical chemistry and laboratory medicine

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