Phenylketonuria Diet Intervention And Efficacy Observation

[Objectives]PKU (phenylketonuria, PKU) is a congenital, hereditary metabolic diseases, one is autosomal, single-gene recessive disease, is caused by defects in the enzymes of phenylalanine (Phe) metabolism.90-98% of the PKU is due to phenylalanine hydroxylase (PAH) gene mutations, then result in reduction or loss of PAH activity and cause phenylalanine can not be converted to tyrosine. So Phe and its bypass metabolite accumulate in blood, tissues and cause disease. Early symptoms of PKU are not obvious. If not timely diagnosis and treatment, they will appear progressive intellectual hypoplasia after 3 to 4 months of birth. Low-phenylalanine diet therapy is the only way of treatment classical PKU. The effects of treatment depend on the starting time of treatment and dietary treatment level of control.To analysis of Taiyuan City hospital nearly 10 years of neonatal screening cases and to understand the incidence of PKU in Taiyuan, through dietary intervention in children with PKU to determine the nutritional diet, provide the basis for clinical treatment.[Method]1.The neonatal screening data of January 2000 to October 2010 in Taiyuan was retrospectively analyzed.2.We use quantitative blood Phe concentration to detecte 8 cases PKU children born in October 2008 to October 2010. According to "Food composition table 2002 " and "Chinese food composition table 2004" and different age, weight, nutrition demand and the amount of Phe tolerance and blood Phe concentration, we adjusted diet and regularly checked their physical growth and mental development. Negative control group is normal children, which age and sex matched with experimental group; positive control group is untreated PKU children.[Results]1.In the nearly 10 years, there were 696,242 people live births in Taiyuan City Hospital.669,528 babys were screened and screening rate was 96.16%; among them,58 cases were diagnosed with phenylketonuria, the incidence rate was 1: 11,544, and the detection rate was 8.66/105; in which,5 cases were tetrahydrobiopterin Neopterin deficiency, the incidence rate was 1:133905 and the detection rate was 0.75/105, accounting of hyperphenylalaninemia (HPA) 8.62%.2.In this study,8 cases of PKU children with application of low-phenylalanine diet, can reduce blood phenylalanine levels in children. Their weight, height, head circumference, other physical growth and mental development were normal. There was no difference compared with the negative control group, but significantly higher than untreated PKU-positive children.[Conclusion]1.There were no difference between the PKU screening rate and detection rate of nearly 10 years in Taiyuan PKU PKU and the national average (u=1.36,P>0.05). The lack of tetrahydrobiopterin (BH4)which type below the national incidence of BH4 deficiency (u=0.64,P<0.05).2.In this study, we developed a reasonable PKU children diet, and add proper complementary feeding to ensure the PKU children's normal growth and to maintain blood phenylalanine concentration in the ideal range. This study was an early foundation for clinical mass PKU diet therapy.