Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
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.
Chen
Jie
J
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bennett
Michael J
MJ
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
D008764:Methylmalonic Acid