title: Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
abstract: The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. This method utilizes a stable-isotope labeled internal standard (trideuterated MMA), which is added to the standards, controls, and patient samples prior to extraction. MMA is derivatized by butylation and the amount quantified against a seven-point standard curve using specific selected ions from both the labeled and unlabeled MMA.
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Jie
authors.initials: J
authors.lastname: Chen
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D008764:Methylmalonic Acid / Q000097:blood*; D012015:Reference Standards; D015203:Reproducibility of Results; D014806:Vitamin B 12 Deficiency / Q000097:blood
chemical_list: D008764:Methylmalonic Acid