THE OPTIMIZED USE OF GAS-CHROMATOGRAPHY MASS-SPECTROMETRY AND HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY TO ANALYZE THE SERUM BILE-ACIDS OF PATIENTS WITH METABOLIC CHOLESTASIS AND PEROXISOMAL DISORDERS

We have measured the bile acids in human serum as methyl ester-trimeth ylsilyl ethers by gas chromatography-mass spectrometry (GC-MS) using a n electron ionization procedure. The overall method was validated and the detection limit (0.4 mu mol/l), linearity (2-30 mu mol/l), intra-d ay and inter-day precision, accuracy and recovery (96.2% for nor-23-de oxycholic acid as internal standard) were measured. Serum C-24-bile ac ids profiles from 43 cholestatic patients were measured by GC-MS and b y HPLC. The results obtained with the two methods were well correlated and the criteria for selecting either HPLC or GC-MS identified. The s erum C-24-and C-27-bile acids and C-29 dicarboxylic bile acid profiles for patients with generalized peroxisomal deficiencies, like Zellwege r syndrome (n = 5), neonatal adrenoleukodystrophy (n = I), infantile R efsum disease (n = 2) and from a single peroxisomal deficiency (n = 1) were also measured by GC-MS.