Objective: To find out a method that is simple and reliable for screening phenylketonuria(PKU) heterozygotes.
Methods: Detecting and analyzing plasma phenylalanine(Phe) and tyrosine(Tyr) from 101 known-PKU heterozygotes and 2023 married people by means of a high performance liquid chromatograph.
Results: Significant differences were observed between known- PKU heterozygotes and screening population in plasma Phe, Phe/Tyr and Phe(2)/Tyr. The values of plasma Phe, Phe/Tyr and Phe(2)/ Tyr from 94.1% known-PKU heterozygotes were higher than mean+2s of those values from screening population. According to the limits of mean+2s, 81 cases were screened out from the 2023 married people. It was the first time to get the actual heterozygote frequency of 4% from population.
Conclusion: The biochemical method mentioned above is available for use in screening PKU heterozygotes.