Hammersen G, Levy H L
Clin Chim Acta. 1977 Jun 15;77(3):295-9. doi: 10.1016/0009-8981(77)90232-7.
Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the purposes of routine newborn screening for galactosemia and other inborn errors of metabolism. Selected for study were those specimens with reduced transferase activity, as determined by the Beutler enzyme spot screening test. Clinically benign low activity enzyme variants were readily identified, thus reducing significantly the number of requested additional blood specimens. Transferase-deficient specimens with potential clinical significance had too little activity for transferase visualization and thus could be separated from the benign variants. This technique would facilitate routine newborn screening for galactosemia.
已对用于半乳糖血症和其他先天性代谢缺陷常规新生儿筛查的干燥滤纸血标本进行了半乳糖-1-磷酸尿苷酰转移酶的淀粉凝胶电泳分析。通过Beutler酶斑点筛查试验确定，选取转移酶活性降低的标本进行研究。临床上良性的低活性酶变体很容易被识别出来，从而显著减少了额外所需血标本的数量。具有潜在临床意义的转移酶缺乏标本活性过低，无法进行转移酶可视化检测，因此可与良性变体区分开来。该技术将有助于半乳糖血症的常规新生儿筛查。
