苯丙酮尿症是一种比较常见的常染色体隐性遗传代谢病,发生率1/万左右。目前国内较早得到治疗的苯丙酮尿症者已经进入婚育年龄,由于遗传基因的特殊性和高苯丙氨酸血浓度的特点,后代有可能出现流产、胎儿脑组织损害,心脏畸形,小头畸形等严重后果[1]。为了减少出生缺陷发生率,对苯 Phenylketonuria is a more common autosomal recessive metabolic disease, the incidence of 1 / 10,000 or so. Currently the earliest treatment of phenylketonuria in the country has entered the age of marriage and childbearing, due to the special nature of the genetic and high blood concentration of phenylalanine characteristics of future generations may have miscarriage, fetal brain damage, cardiac malformations, small Head deformities and other serious consequences [1]. In order to reduce the incidence of birth defects, benzene