高效液相色谱法及串联质谱法在苯丙酮尿症筛查诊断中的应用

Application of MS/MS method and HPLC method for screening and diagnosis of PKU

目的考查了高效液相色谱（HPLC）法和串联质谱（MS/MS）法在遗传代谢性疾病苯丙酮尿症（PKU）筛查中的应用及意义。方法利用MS/MS法和HPLC法分别分析了1 860例出生3d至11岁儿童的干血滤纸片及全血标本中苯丙氨酸（Phe）、酪氨酸（Tyr）浓度及其比值。结果 MS/MS法和HPLC法Phe线性范围为26.02~101.11μmol/L和32.04~132.50μmol/L,Tyr线性范围为41.50~253.07μmol/L和32.85~111.50μmol/L,平均回收率Phe为97.36%和98.43%,Tyr为96.71%和98.99%,批内CV Phe为4.31%和3.97%,Tyr为4.09%和4.01%,批间CV Phe为5.73%和4.58%,Tyr为6.01%和5.24%。结论两种方法均能灵敏,特异的测定血中Phe和Tyr浓度,满足对PKU筛查及诊断的需要。

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 .