Christensen E, Brandt N J
J Inherit Metab Dis. 1978;1(4):167-9. doi: 10.1007/BF01805589.
Whole-blood galactose-1-phosphate uridyl transferase (Gal-PUT) (EC 2.7.7.12) activity was absent in a newborn boy with galactosaemic symptoms. The symptoms disappeared on a galactose free diet. In the next pregnancy prenatal diagnosis was performed. Gal-PUT activity was measured by isotope technique and Gal-PUT genotype was determined by gel electrophoresis. The mother was shown to be heterozygous Duarte/heterozygous Los Angeles, the father heterozygous Duarte/heterozygous galactosaemia. The fetus had the same genotype as the father. A normal girl without galactosaemic symptoms was born. Reinvestigation of the index case showed that he was also heterozygous Duarte/heterozygous galactosaemia. It is concluded that the activity of Gal-PUT should always be measured by isotope technique to prove the diagnosis of heteditary galactosaemia. Furthermore, Gal-PUT-genotyping in families with rare alleles is essential for safe prenatal diagnosis.
一名有半乳糖血症症状的男婴全血中缺乏1-磷酸半乳糖尿苷转移酶（Gal-PUT）（EC 2.7.7.12）活性。症状在无半乳糖饮食后消失。在接下来的孕期进行了产前诊断。采用同位素技术测定Gal-PUT活性，并通过凝胶电泳确定Gal-PUT基因型。结果显示母亲为杜阿尔特杂合子/洛杉矶杂合子，父亲为杜阿尔特杂合子/半乳糖血症杂合子。胎儿与父亲基因型相同。一名无半乳糖血症症状的正常女孩出生。对索引病例的再次检查显示他也是杜阿尔特杂合子/半乳糖血症杂合子。得出结论，应始终采用同位素技术测定Gal-PUT活性以确诊遗传性半乳糖血症。此外，对具有罕见等位基因的家庭进行Gal-PUT基因分型对于安全的产前诊断至关重要。
