ABSTRACT
Objective To evaluate the outcomes of children with Phenylketonuria(PKU)detected by newborn screening program.Methods One hundred and two children with PKU were detected and diagnosed in Shanxi Newborn Screening Center from June 2004 to September 2014.All children with PKU were followed up until December 2015.During the follow-up,the Phenylalanine(Phe)levels,physical and intellectual development, nutrition status of those children were monitored.Results Among 102 PKU children,there were 96(94.12%)with normal physical development,and 93(91.18%)with normal DQ/IQ.The average DQ or IQ score in children who started the therapy before 1 month was higher than that in those who started after 1 month old(93.07 ±9.50 vs.87.39 ±10.99,t=3.09, P=0.00).Among these children 82.47%(80/97)had zinc deficiency and 31.46%(28/89)had dyslipidemia; and the normal Phe concentration rate was(59.73 ±19.03)%.The intellectual development level was negatively correlated with the age of starting therapy(r=-0.25, P=0.01), positively correlated with the education levels of his/her father(r=0.21,P=0.03)and mother(r=0.23, P=0.02).And the intellectual development was better in urban areas than that in rural areas.Conclusions With the standardized treatment, the physical and intellectual development of children with PKU can basically reach normal levels,and the earlier treatment can make better therapeutic effect.