Işeri-Erten Sevgin Özlem, Dikmen Zeliha Günnur, Ulusu Nuriye Nuray
Hacettepe University, Faculty of Medicine, Department of Biochemistry, Ankara, Turkey.
Koç University, School of Medicine, Department of Biochemistry, Istanbul, Turkey.
J Med Biochem. 2016 Apr;35(2):123-129. doi: 10.1515/jomb-2016-0004. Epub 2016 May 9.
Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. Biotinidase (BTD) catalyzes the recycling of biotin from endogenous and dietary sources. Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences when untreated. The aim of the study was to compare the results of spectrophotometric and fluorimetric methods, as well as to evaluate the advantages and disadvantages of both methods in current research practices.
Study group was chosen among the BD suspected newborn, children and parents (n = 52) who applied to Hacettepe University Pediatric Metabolism Unit.
BTD activity is stable for 2 hours at room temperature and at 4 °C, and for 4 months at -20 °C and -80 °C. Genetic and clinical results showed that 25% of the total number of patients had complete BD which was treated with 10 mg/day biotin, while 15.38% of the patients had partial BD, and they were prescribed biotin 5 mg/day. The area under the ROC curve was 0.960±0.25 and 0.927± 0.41 for the fluorimetric and spectrophotometric method, respectively. Fluorimetric method showed 100% sensitivity and 97% specificity, whereas spectrophotometric method showed 90.5% sensitivity and 93.7% specificity.
Fluorimetric method is superior to the spectrophotometric method due to higher sensitivity and specificity.
生物素是一种水溶性维生素，作为参与羧化反应的酶的辅助因子。生物素酶（BTD）催化生物素从内源性和饮食来源的再循环。生物素酶缺乏症（BD）是一种常染色体隐性遗传的生物素再循环障碍，未经治疗时与神经和皮肤后果相关。本研究的目的是比较分光光度法和荧光法的结果，并评估这两种方法在当前研究实践中的优缺点。
研究组选自申请到哈杰泰佩大学儿科代谢科的疑似患有BD的新生儿、儿童及其父母（n = 52）。
BTD活性在室温及4℃下可稳定2小时，在-20℃和-80℃下可稳定4个月。基因和临床结果显示，患者总数的25%患有完全性BD，用10mg/天的生物素治疗，而15.38%的患者患有部分性BD，他们的生物素处方剂量为5mg/天。荧光法和分光光度法的ROC曲线下面积分别为0.960±0.25和0.927±0.41。荧光法的灵敏度为100%，特异性为97%，而分光光度法的灵敏度为90.5%，特异性为93.7%。
荧光法由于具有更高的灵敏度和特异性，优于分光光度法。
