Gas chromatographic profiling and determination of urinary acylcarnitines

A method is described for the routine profiling and determination in urine of most of the acylcarnitines clinically relevant for the diagnosis of organic acidurias. The procedure, which does not require expensive apparatus, involves extraction of the acylcarnitines on strong cation-exchange disposable columns, mild alkaline hydrolysis and gas chromatography of the liberated monocarboxylic acids. The different steps were optimized in order to increase the analytical performance. No significant interferences were encountered, the limit of detection (signal-to-noise ratio = 3:1) ranged from 0.1 to 4 mg/l and the between-day coefficient of variation from 3.6 to 17.7%, depending on the acyl species. The rapidity of the method results from the application of a single solid-phase extraction on disposable columns. The acyl moieties are chromatographed underivatized in order to permit the identification of short-, medium- and long-chain acylcarnitines. The method was assessed by analysing fourteen urine specimens from patients presenting an organic aciduria.