Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
复制标题
通过测量尿尿嘧啶检测鸟氨酸转氨甲酰酶缺乏杂合子。
DOI：
10.3892/ijmm.6.2.177
复制
发表时间：
2000
影响因子：
5.4
通讯作者：
Y. Wada
中科院分区：
文献类型：
--
作者：
S. Sumi;T. Matsuura;K. Kidouchi;H. Togari;M. Kubota;O. Kitou;H. Mikami;T. Ohura;I. Matsuda;Y. Wada
检测X-连锁鸟氨酸转氨甲酰酶缺乏症杂合性的重要性是众所周知的。虽然DNA分析和别嘌呤醇负荷试验通常用于此目的，但这两种方法都需要复杂的程序。为了建立一种简便的检测女性杂合子的方法，我们检测了70名健康女性和12名无症状的鸟氨酸转氨甲酰酶缺乏症女性的单次尿标本中的尿嘧啶和乳清酸。根据健康女性的结果，我们能够确定尿嘧啶的筛选临界线为11.9 μ mol/mmol肌酐（对数形式的平均值+/-1 SD）。以此为分界线，OCT杂合子的敏感性为100%。我们还能够建立诊断的第二个临界线28.9 μ mol/mmol肌酐（对数形式的平均值+/- 3SD）。使用第二个临界线，OCT杂合子的特异性为100%。我们的研究表明尿嘧啶测定是一种比较简单而有效的检测女性杂合子的方法。
The importance of detecting heterozygosity for X-linked ornithine transcarbamylase deficiency is well known. Although the DNA analysis and the allopurinol loading tests are commonly used for this purpose, both methods require complicated procedures. In order to establish a simple test for detecting female heterozygotes, we examined the uracil and orotic acid in single-voided urine samples from 70 healthy women, and from 12 asymptomatic females with ornithine transcarbamylase deficiency. Based on the results of healthy women, we were able to determine a screening cut-off line of 11.9 micromol/mmol creatinine (mean +/- 1SD in logarithmic form) for uracil. Using this cut-off line, the sensitivity of OCT heterozygotes was 100%. We were also able to establish a second cut-off line of 28.9 micromol/mmol creatinine (mean +/- 3SD in logarithmic form) for diagnosis. Using this second cut-off line, the specificity of OCT heterozygotes was 100%. Our study has shown that the measurement of urinary uracil is a relatively simple and effective method for detecting female heterozygotes.