Paigen K, Pacholec F, Levy H L
J Lab Clin Med. 1982 Jun;99(6):895-907.
A method has been developed for detecting elevated levels of galactose and galactose-1-phosphate in routine blood samples of newborns and has been successfully applied as a screening procedure for galactosemia in several laboratories. The procedure utilizes a strain of Escherichia coli that becomes resistant to bacteriophage C21 in the presence of galactose. The presence of galactose or galactose-1-phosphate is detected as a zone of bacterial growth around blood spots placed on a dish in which the bacteria are otherwise killed by phage. The diameter of the growth zone is proportional to the concentration of total blood galactose. The procedure has the potential of detecting all metabolic abnormalities that can lead to the accumulation of galactose or galactose-1-phosphate. Over a million newborn infants have now been tested by this procedure in three countries. In the New England Regional Screening Program, 12 galactosemic children were detected in 825,403 live births. One additional case, a sibling of a previously diagnosed galactosemic, was not allowed any milk feeding and was detected by an enzymatic test of cord blood. The combined frequency was 1:63,000. No problems of interference by antibiotics were apparent. Use of the test in Switzerland and in Japan also allowed the discovery of infants with UDP galactose 4-epimerase deficiency. Our experience suggests that the test provides an efficient and reliable means of detecting congenital defects of galactose metabolism with a very low frequency of errors. It can also be used to monitor blood galactose levels in the management of galactosemic children.
已开发出一种检测新生儿常规血样中半乳糖和1-磷酸半乳糖水平升高的方法，并已在多个实验室成功用作半乳糖血症的筛查程序。该程序利用一种大肠杆菌菌株，该菌株在半乳糖存在下对噬菌体C21产生抗性。半乳糖或1-磷酸半乳糖的存在通过放置在培养皿上血斑周围的细菌生长区域来检测，否则细菌会被噬菌体杀死。生长区域的直径与全血半乳糖浓度成正比。该程序有潜力检测所有可导致半乳糖或1-磷酸半乳糖积累的代谢异常。现在已有三个国家的超过一百万新生儿接受了该程序检测。在新英格兰地区筛查项目中，在825,403例活产中检测出12例半乳糖血症患儿。另外一例是先前诊断出的半乳糖血症患儿的同胞，未给予任何奶类喂养，并通过脐血酶促试验检测出。合并发病率为1:63,000。未发现抗生素干扰问题。在瑞士和日本使用该检测方法还发现了患有UDP半乳糖4-表异构酶缺乏症的婴儿。我们的经验表明，该检测方法提供了一种高效可靠的手段，用于检测半乳糖代谢先天性缺陷，错误率极低。它还可用于监测半乳糖血症患儿治疗过程中的血半乳糖水平。
