Naylor E W, Orfanos A P, Guthrie R
J Lab Clin Med. 1977 Apr;89(4):876-80.
A simple fluorescent spot screening test has been developed for the identification of individuals with arginase deficiency (hyperargininemia). The assay is based on the coversion of arginine to ornithine and urea by arginase present in 1/8 inch disc of dried blood on filter paper. The enzyme activity is visually estimated by the oxidation of NAD-H to NAD+ in a coupled kinetic reaction. In the absence of the enzyme, there is no oxidation of the NAD-H and consequently no loss of fluorescence. The screening assay has been used to identify successfully both heterozygous and homozygous arginase-deficient crabeater macaques (M. fascicularis) as well as three patients with hyperargininemia. This test can be used to screen large numbers of patients with mental retardation or seizure disorders rapidly to determine the frequency of this disorder more precisely.
已开发出一种简单的荧光斑点筛查试验，用于识别精氨酸酶缺乏症（高精氨酸血症）患者。该检测基于滤纸 1/8 英寸干血片中存在的精氨酸酶将精氨酸转化为鸟氨酸和尿素。通过在偶联动力学反应中将 NAD-H 氧化为 NAD+来目测估计酶活性。在没有该酶的情况下，NAD-H 不会被氧化，因此不会有荧光损失。该筛查试验已成功用于识别杂合子和纯合子精氨酸酶缺乏的食蟹猴（M. fascicularis）以及三名高精氨酸血症患者。该测试可用于快速筛查大量患有智力障碍或癫痫疾病的患者，以更精确地确定这种疾病的发病率。
