Radomyska B
Klinika Pediatrii, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211, Warszawa, Poland.
Med Wieku Rozwoj. 2001 Jan-Mar;5(1):51-8.
Galactosemia is an autosomal recessive disease related to deficiency of one of three different enzymes involved in the metabolism of galactose: galactokinase (GALK), galactoso-J-phosphate uridyltransferase (GALT) or UDP-galactose-4-epimerase (GALE). Classic galactosemia is due to GALT deficiency and is the most common. Longitudinal studies have shown that in spite of early diagnosis and early treatment of children with galactosemia detected in the mass screening programme, the results are poor and mental retardation as well as other complications are of similar severity as in children diagnosed clinically without screening. In many investigations it was also proved that some impairments developed already in the prenatal period. Therefore, many countries among them also Poland, stopped mass screening for galactosemia. At present, in Poland the procedure strategy in galactosemic children and their families include: diagnosis of new cases on the basis of clinical symptoms, selective screening in high-risk families, prophylactic lactose-free diet for mothers during pregnancy. Such management can help to prevent clinical manifestations in newborns and prevent death in the early period of life.
半乳糖血症是一种常染色体隐性疾病，与参与半乳糖代谢的三种不同酶之一的缺乏有关：半乳糖激酶（GALK）、半乳糖-1-磷酸尿苷转移酶（GALT）或UDP-半乳糖-4-表异构酶（GALE）。典型的半乳糖血症是由于GALT缺乏，也是最常见的。纵向研究表明，尽管对在大规模筛查项目中检测出的半乳糖血症患儿进行了早期诊断和早期治疗，但结果不佳，智力迟钝以及其他并发症的严重程度与未经筛查而临床诊断的患儿相似。在许多研究中还证明，一些损伤在胎儿期就已出现。因此，包括波兰在内的许多国家都停止了对半乳糖血症的大规模筛查。目前，在波兰，针对半乳糖血症患儿及其家庭的程序策略包括：根据临床症状诊断新病例、对高危家庭进行选择性筛查、孕妇在孕期食用预防性无乳糖饮食。这种管理有助于预防新生儿的临床表现并防止生命早期死亡。
