title: CAD MIKES: a new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria.
abstract: A novel application of Collisionally Activated Decomposition Mass analysed Ion Kinetic Energy (CAD MIKE) spectrometry to separation and positive structural identification of urinary methylmalonic acid (MMA) (the pathognomonic compound for the diagnosis of methylmalonic acidurias) is presented. CAD MIKES scans of EI ionic species at m/z 119 ([M + H]+) and m/z 101 ([M-OH]+) have been obtained from a pure standard of MMA and from crude urinary acid fractions. With reference to the procedures employed so far, the advantages of the proposed method lie in fast and simplified sample pretreatment and in a quick non-controversial response to a clinical suspicion of serious, life-threatening inherited metabolic diseases.
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008297:Male; D008314:Malonates / Q000652:urine*; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine*
chemical_list: D008314:Malonates; D008764:Methylmalonic Acid