Gitzelmann R
Monatsschr Kinderheilkd (1902). 1976 Sep;129(9):654-7.
Three inborn errors of galactose metabolism as known today. Only two of them cause illness: the deficiencies of galactokinase and of galactose-l-phosphate uridyltransferase. Both can be detected through mass screening of newborns and are amenable to a simple and successful dietary treatment. Mass screening of newborns for disorders of galactose metabolism can be performed efficiently and inexpensively if it is incorporated in the general newborn screening program.
如今已知三种先天性半乳糖代谢缺陷。其中只有两种会引发疾病:半乳糖激酶缺乏症和1-磷酸半乳糖尿苷转移酶缺乏症。这两种疾病都可以通过新生儿群体筛查检测出来,并且可以通过简单且成功的饮食疗法进行治疗。如果将新生儿半乳糖代谢紊乱的筛查纳入常规新生儿筛查项目,就可以高效且低成本地进行。