Application of MS/MS method and HPLC method for screening and diagnosis of PKU / 国际检验医学杂志

ABSTRACT

Objective To investigate the application and significance of the MS/MS method and the HPLC method for the screening and diagnosis of genetic metabolic disease phenylketonuria (PKU) .Methods The MS/MS method and the HPLC method were adopted to analyze the concentrations of phenylalanine(Phe) and tyrosine(Tyr) and its ratio in the dried blood spot specimen on filter paper and the whole blood specimen in 1 860 children aged from 3 d to 11 years old .Results The linear ranges of Phe by the MS/MS method and the HPLC method were 26 .02 - 101 .11 μmol/L and 32 .04 - 132 .50 μmol/L ,which of Tyr were 41 .50 -253 .07 μmol/L and 32 .85 - 111 .50 μmol/L ,the average recovery rates of Phe were 97 .36% and 98 .43% ,which of Tyr were 96 .71% and 98 .99% ,in‐run CV of Phe were 4 .31% and 3 .97% ,which of Tyr were 4 .09% and 4 .01% ,between‐run CV of Phe were 5 .73% and 4 .58% ,which of Tyr were 6 .01% and 5 .24% ,respectively .Conclusion Both methods can sensitively and specif‐ically detect blood Phe and Tyr concentrations and meet the requirements of screening and diagnosis of PKU .