Kikuchi M, Hanamizu H, Narisawa K, Tada K
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Clin Chim Acta. 1989 Oct 16;184(3):307-13. doi: 10.1016/0009-8981(89)90064-8.
An assay for methylmalonyl CoA mutase activity is described. Succinyl CoA produced in this method is separated from the substrate, methylmalonyl CoA, by reverse-phase high-performance liquid chromatography and is quantified. This method is useful to differentiate mutase apoenzyme deficiency (mut0, mut-) and the defect in deoxyadenosylcobalamin synthesis using fibroblasts cultured in high concentration of supplementary hydroxocobalamin. In methylmalonic acidemia, measurement of lymphocytes mutase activity offers therapeutical and prognostic informations.
本文描述了一种甲基丙二酰辅酶A变位酶活性的检测方法。该方法中产生的琥珀酰辅酶A通过反相高效液相色谱法与底物甲基丙二酰辅酶A分离并进行定量。该方法有助于区分变位酶脱辅基酶缺乏症（mut0，mut-）以及在高浓度补充羟钴胺素培养的成纤维细胞中脱氧腺苷钴胺素合成的缺陷。在甲基丙二酸血症中，淋巴细胞变位酶活性的测定可提供治疗和预后信息。
