Schön R
Wien Klin Wochenschr. 1976 Apr 16;88(8):274-7.
A fluorescence test was introduced in October 1974 as a screening procedure for galactosaemia in newborn infants and has been performed parallel with the Guthrie test. It is simple faster, but less sensitive (lower limit: 30 mg% galactose) than the Guthrie test. The fluorescence test provides a time saving of 1 1/2 days (3 1/2 days at weekends) which is of great importance in the diagnosis of this frequently fulminant illness. A further advantage is the high substrate specifity. One case of galactosaemia was diagnosed and only 1 false positive result was obtained amongst 50.000 screened infants, in comparison with 14 false positive results (greater than of equal to 30mg% galactose) with the Guthrie test. Of the 21 cases of galactosaemia detected to date by means of the mass screening programme 18 were due to transferase deficiency and two thirds of these cases ran a fulminant course. Initial blood galactose levels of greater than or equal to 50 mg% were registered in nearly all the cases of galactosaemia but levels of greater than or equal to 30mg% were found in 2 infants. The fluorescence test is a valuable supplementary screening test for galactosaemia but cannot replace the sensitive Guthrie test.
1974年10月引入了荧光试验，作为新生儿半乳糖血症的筛查程序，并与格思里试验同时进行。它操作简单、速度更快，但比格思里试验灵敏度低（下限：30mg%半乳糖）。荧光试验可节省1.5天时间（周末节省3.5天），这对诊断这种常呈暴发性的疾病非常重要。另一个优点是底物特异性高。在50000名接受筛查的婴儿中，诊断出1例半乳糖血症，仅获得1例假阳性结果，而格思里试验有14例假阳性结果（大于或等于30mg%半乳糖）。在迄今为止通过大规模筛查计划检测出的21例半乳糖血症病例中，18例是由于转移酶缺乏，其中三分之二的病例呈暴发性病程。几乎所有半乳糖血症病例的初始血半乳糖水平都大于或等于50mg%，但在2名婴儿中发现血半乳糖水平大于或等于30mg%。荧光试验是半乳糖血症的一种有价值的辅助筛查试验，但不能替代灵敏的格思里试验。
