半乳糖血症是一种由于先天性半乳糖-1-尿苷转移酶缺乏而引起的半乳糖代谢异常,属常染色体隐性遗传,发病率1∶40000。我院近年来收治3例,现报告如下。例1,男,70天。因呕吐、黄疸月余入院。患儿经常鼻衄、尿黄、大便白、生长停滞。混合喂养,母曾流产8次,故孕期持续服保胎药。体检:T38.8℃。 Galactosemia is a galactose metabolism disorder caused by the lack of congenital galactose-1-uridinetransferase, which is autosomal recessive with an incidence of 1: 40000. In our hospital admitted to 3 cases in recent years, are as follows. Example 1, male, 70 days. Due to vomiting, jaundice month more than admission. Children often nostril, urine yellow, stool white, growth stagnation. Mixed feeding, the mother had abortion 8 times, so the pregnancy continued to take tocolytic drugs. Physical examination: T38.8 ℃.