A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
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DOI：
10.1542/peds.32.3.338
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发表时间：
1963-09
期刊：
影响因子：
8
通讯作者：
R. Guthrie;Ada Susi
中科院分区：
文献类型：
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作者：
R. Guthrie;Ada Susi
描述了一种新的方法，用于快速和经济的筛查大量医院托儿所婴儿的血苯丙氨酸升高与苯丙酮尿症。结果为682名婴儿，其中96%是4天的年龄。没有发现血液苯丙氨酸值高达4 mg/100 ml，只有8%高于2 mg/100 ml。这些值似乎与其他方法获得的值一致，并表明在检测苯丙酮尿症病例所需的10，000或更多婴儿的筛查期间，将遇到非常低的“假阳性”率。建议将6 mg/100 ml或以上的任何结果视为阳性，并需要通过第二份血液标本的苯丙氨酸测定进行确认。
A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria. Results are presented for 682 infants, 96% of whom were 4 days of age. None of the blood phenylalanine values were found to be as high as 4 mg/100 ml, and only 8% were above 2 mg/100 ml. These values appear to be in agreement with values obtained by other methods, and indicate that a very low rate of "false-positives" will be encountered during screening of the 10,000 or more infants that may be necessary to detect a case of phenylketonuria. It is recommended that any result of 6 mg/100 ml or above be considered positive, and require confirmation by phenylalanine determination of a second blood specimen.