Objective: To analyze the results of screening for neonatal phenylketonuria (PKU) in Zhejiang Province.
Methods: The screening for neonatal PKU was conducted among 726,998 newborns in Zhejiang Province. Heel prick blood specimens were collected around 72 h after birth with 6 intakes of high protein milk and the specimens were dried on S and S903 filter papers. Phenylalanine (Phe) levels were determined quantitatively with Perkin Elmer Neonatal Fluorometric PKU kits.
Results: Among 726,998 newborns, elevated blood Phe levels were found in 152 infants. They were all recalled for serum amino acid analysis and 32 were confirmed to have PKU with 19 males and 13 females. The earliest time of confirmation was 16 d and latest was 105 d with the median of 32 d.
Conclusion: The data shows that the detection rate of screening for neonatal phenylketonuria in Zhejiang Province was 1/22,718.