目的 探讨苯丙酮尿症早期诊断、早期治疗、苯丙氨酸血浓度与患儿智商的相关性。方法 回顾性地对比陕西省妇幼保健院新筛出的苯丙酮尿症患儿与延迟治疗患儿(因其它原因来院就诊并确诊的苯丙酮尿症患儿)以及依从性好的与依从性差的患儿智力进行对比。结果 新筛患儿智力高于延迟治疗患儿智力, 差异有统计学意义(P＜0.05), 依从性好的患儿智力水平高于依从性差的患儿智力, 差异有统计学意义(P＜0.05)。开始治疗的年龄越小智力越高。结论 进行新生儿筛查, 早期诊断、早期饮食治疗是关键, 正确的指导, 家长及患儿的配合, 社会的支持是保证疗效的重要措施。

Objective To discuss the early diagnosis and early treatment for phenylketonuria (PKU). Methods Retrospective study and contrast the new chosen sick children who were made a definite diagnosis to those who were delayed to be treated (because of other reasons to come to Shaanxi Maternal and Child Care Service Centre and be diagnosed as PKU).The sick children with better dependency were contrasted to those who had worse dependency. Results The ratio of the new chosen sick children and those who were delayed to be treated, had significant difference(P<0.05).The ratio of the sick children with better dependency and those with worse dependency had significant difference too(P<0.05). Conclusions Screening newborns, having early diagnosis and early treatment are the key ways, because the little the child is, the higher the intelligence quotient (IQ) is.Right guidance, cooperation of the parents and children and the support of the society are the most important measures to ensure the curative effect.