半乳糖血症是因酶缺陷造成的代谢紊乱病,1908年Von Reuss首先作临床报道,1917年Goppert认为它有遗传性。目前已知它属常染色体隐性遗传,两性均可发病。其临床表现轻重不等,轻者临床上正常,重者从出生后不久即对乳类不能耐受,呕吐、腹泻、肝大、黄疸,有的可见白内障、智能低下、半乳糖血症、半乳糖尿症、蛋白尿及氨基酸尿,更重的完全依靠补液来维持。此病从胎儿期即可进行筛选以预防先天性脑发育不全及白内障。任 Galactosemia is a metabolic disorder caused by enzyme defects. In 1908, Von Reuss firstly reported the clinical results. In 1917 Goppert considered it as hereditary. It is known to be autosomal recessive, both sexes can be disease. The clinical manifestations ranging from light to light in clinical normal, severe cases of milk intolerable shortly after birth, vomiting, diarrhea, hepatomegaly, jaundice, some visible cataract, mental retardation, galactosemia, half Lactuloseuria, proteinuria and amino acid urine, heavier relying solely on fluid to maintain. The disease can be screened from the fetus to prevent congenital brain hypoplasia and cataracts. Ren