IDENTIFICATION AND QUANTITATIVE ANALYSIS OF ACYLCARNITINES IN HUMAN URINE BY THERMOSPRAY HPLC/MS.

Recent studies have indicated that children with disorders of amino acid and fat metabolism ('organic acidurias') excrete elevated concentrations of short-chain acylcarnitine. Urine samples were passed over Dowex-50 (H** plus form) and, after washing with 0. 01 N HCl and water, the acylcarnitine fraction was eluted with 1M NH//4OH in water: ethanol (4:1). After lyophilization, samples were dissolved in HPLC buffer prior to analysis. The HPLC/MS technique was used to show that the major acylcarnitines excreted in medium-chain acyl-CoA dehydrogenase deficiency (MCAD), a disorder of fat metabolism, are octanoylcarnitine (mostly) and hexanoylcarnitine.

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Author David Stuart Millington Pediatrics, Medical Genetics