Analysis of urinary organic acids by liquid chromatography-atmospheric pressure chemical ionization mass spectrometry.

We developed a new method for the rapid determination of urinary organic acids using liquid chromatography-atmospheric pressure chemical ionization mass spectrometry. Mass spectra of authentic organic acids obtained in the negative-ion mode showed intense [M-H]- ions with some fragment ions. Urine samples of patients with methylmalonic aciduria, ornithine transcarbamylase deficiency, and phenylketonuria were extracted using anion-exchange columns. The mass chromatograms of the extracts showed some dominant peaks of abnormal metabolites characteristic of each disorder. This is a useful method for the analysis of urinary organic acids for the diagnosis of organic aciduria, because the sample preparation is simple.