半乳糖血症是一种先天性遗传性半乳糖代谢缺陷病。1908年首先由Reuss氏报告,近几年由于诊断方法的进步,对本病的报告逐渐增多。1982年我们经历一例半乳糖血症,曾被诊断为腹膜炎、肠梗阻进行剖腹探查的复杂病历。今将本例介绍如下,并综合国内外文献对本病加以讨论。 Galactosemia is a congenital hereditary galactose deficiency disease. First reported by Reuss in 1908, in recent years due to advances in diagnostic methods, the report of the disease gradually increased. In 1982 we experienced a case of galactosemia, had been diagnosed as peritonitis, intestinal obstruction for laparotomy complicated medical records. This case is introduced below, and the domestic and foreign literature to discuss the disease.