Lee J Y, Padilla C D, Chua E L
University of the Philippines Manila.
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:66-8.
Galactosemia is an inborn error of galactose metabolism due to a deficiency of any of the galactokinase, galactose-1-phosphate uridyl transferase (GALT), or epimerase enzymes. The Philippines, with its pilot newborn screening project, has been screening for this disorder for 2 years now. A total of 62,841 babies have been screened using the galactose and galactose-1-phosphate spot test. Confirmatory testing is done by the newborn screening laboratory of the The New Children's Hospital in Westmead, Australia. Two cases of galactosemia: 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. Clinical review, problems encountered, and management are described. Long-term outcome of these patients, however, is yet to be determined.
半乳糖血症是一种由于缺乏半乳糖激酶、半乳糖-1-磷酸尿苷酰转移酶（GALT）或表异构酶等任何一种酶而导致的半乳糖代谢先天性缺陷。菲律宾开展了新生儿筛查试点项目，至今已对这种疾病进行了两年的筛查。共有62841名婴儿接受了半乳糖和半乳糖-1-磷酸斑点试验筛查。确诊检测由澳大利亚韦斯特米德新儿童医院的新生儿筛查实验室进行。到目前为止，已确诊两例半乳糖血症病例：1例典型半乳糖血症和1例半乳糖激酶缺乏症。文中描述了临床检查情况、遇到的问题及处理方法。然而，这些患者的长期预后尚待确定。
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