Suormala T, Wick H, Bonjour J P, Baumgartner E R
Clin Chim Acta. 1985 Jan 30;145(2):151-62. doi: 10.1016/0009-8981(85)90282-7.
We have developed a method for rapid differential diagnosis of isolated or multiple deficiencies of the 3 mitochondrial biotin-dependent carboxylases: propionyl-CoA (PCC), 3-methylcrotonyl-CoA (MCC) and pyruvate carboxylase (PC), and for simultaneous evaluation of biotin-responsiveness using a single blood sample. Lymphocytes were isolated from heparinized blood and preincubated without and with 10(-5) mol/l biotin in medium before determination of PCC, MCC and PC activities. Plasma was used for estimation of biotin concentration and biotinidase activity. A definitive diagnosis could be made in 7 of 9 patients studied up to now: 4 patients suffered from biotin-nonresponsive isolated PCC-deficiency, and 3 patients from biotin-responsive multiple carboxylase deficiency caused by deficient biotinidase activity. In two patients, a carboxylase deficiency was excluded. These results were confirmed in studies using fibroblasts. In addition, a simple method for detection of deficiency in holocarboxylase synthesis is described.
我们已经开发出一种方法，用于快速鉴别诊断3种线粒体生物素依赖性羧化酶的单独或多种缺乏症：丙酰辅酶A（PCC）、3-甲基巴豆酰辅酶A（MCC）和丙酮酸羧化酶（PC），并使用单一血样同时评估生物素反应性。从肝素化血液中分离淋巴细胞，在测定PCC、MCC和PC活性之前，先在培养基中不添加和添加10^(-5)mol/L生物素进行预孵育。血浆用于评估生物素浓度和生物素酶活性。在目前研究的9例患者中，7例可做出明确诊断：4例患者患有生物素无反应性孤立性PCC缺乏症，3例患者患有因生物素酶活性缺乏导致的生物素反应性多种羧化酶缺乏症。2例患者排除了羧化酶缺乏症。这些结果在使用成纤维细胞的研究中得到了证实。此外，还描述了一种检测全羧化酶合成缺陷的简单方法。
