枫糖尿症(MSUD)是新生儿期的一种先天性氨基酸代谢病,1954年Menkes首先报道1个家庭的4个婴儿尿有异臭,最后均呈进行性神经系统损害死亡,这4名婴儿均于生后3～5天出现症状.而于出生14天死亡。随后各国报遭陆续出现,至今无论是临床、生化缺陷,遗传方式、治疗以及产前诊断均已有定论。我 Mapoducoseuria (MSUD) is a congenital amino acid metabolism in the neonatal period. In 1954, Menkes first reported that four infants in one family had different stench and eventually died of progressive nervous system damage. These four infants Symptoms occurred 3 to 5 days after birth, but died at 14 days of birth. Subsequent national reports have been gradually emerged, so far, whether clinical, biochemical defects, genetic methods, treatment and prenatal diagnosis have been conclusive. I