Chen Jie, Bennett Michael J
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Methods Mol Biol. 2010;603:365-70. doi: 10.1007/978-1-60761-459-3_35.
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.
血浆或血清甲基丙二酸（MMA）的检测对于监测因甲基丙二酰辅酶A变位酶缺乏、维生素B12代谢缺陷导致的甲基丙二酸血症患者的治疗情况以及确定功能性维生素B12缺乏症很有用。该方法使用一种稳定同位素标记的内标（三重氘代MMA），在提取前将其添加到标准品、对照品和患者样本中。MMA通过丁基化进行衍生化，并使用来自标记和未标记MMA的特定选择离子，根据七点标准曲线对其含量进行定量。
