Abstract
Gas chromatography/mass spectrometry (GC/MS) is the most suitable technique for the diagnosis of disorders of organic acid metabolism, known as organic acidurias. They are inherited metabolic disorders that are characterized by an excessive amount of organic acids and their metabolites. Now in many clinical and diagnostic laboratories, automated, quantitative, and qualitative procedures for complex mixture analysis of urinary organic acids by GC/MS are used. In this review, current chromatography/mass spectrometry method and its applications in different diseases and disorders on the basis of urinary organic acids analysis are summarized. In this article, advantages and disadvantages of extraction and derivatization methods in the investigation of organic acids are reviewed. Moreover, the choice of an internal standard and typical procedure in the analysis of organic acids are presented.
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