关键词: 苯丙酮尿症, 新生儿筛查, 依从性, 智力

Abstract: 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.

Key words: phenylkentonuria, screening newborns, dependency intelligence quotient, intelligence quotient