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目的了解苯丙氨酸负荷试验对高苯丙氨酸血症HPA患儿血苯丙氨酸Phe和酪氨酸Tyr浓度及其比值Phe/Tyr的影响。方法HPA组30例,非HPA儿童(对照组)33例。所有儿童均空腹口服Phe100mg/kg,分别于服Phe前0h、服Phe后1h、2h、3h、4h采手指血,滴于滤纸片上,取直径3mm干血滤纸片,经含Phe和Tyr同位素内标的甲醇萃取,盐酸正丁醇衍生,进行串联质谱分析,测定Phe、Tyr浓度和Phe/Tyr值。结果血Phe浓度HPA组于服Phe后2h最高,服Phe后4h仍维持在较高水平,对照组于服Phe后1h值最高,服Phe后4h下降至接近正常浓度,两组比较各时间段差异均有显著性(P<0.001)。Tyr浓度HPA组各时间段差异无显著性,对照组于服Phe后逐渐升高,各时间段差异有显著性P<0.05,于服Phe后2h、3h时高于HPA组,差异有显著性(P<0.05)。Phe/Tyr值HPA组各时间段均高于对照组,差异非常显著(P<0.001)。结论HPA患儿Phe代谢速度下降,测定血Phe浓度结合Phe/Tyr值有助于HPA诊断。
Objective To investigate the effects of phenylalanine load test on the concentrations of Phe and tyr Tyr and the ratio of Phe / Tyr in hyperphenylalaninemia children with HPA. Methods 30 cases of HPA group, 33 cases of non-HPA children (control group). All children were fasting oral Phe100mg / kg, respectively, 0h before serving Phe, taking Phe after 1h, 2h, 3h, 4h finger finger blood, drip on the filter paper, take the diameter of 3mm dry blood filter paper, containing Phe and Tyr isotope The standard methanol extraction, n-butanol derived hydrochloride, tandem mass spectrometry analysis, determination of Phe, Tyr concentration and Phe / Tyr value. Results The blood Phe concentration in HPA group was the highest at 2h after taking Phe, 4h after taking Phe, the level was still maintained at 4h. The control group was the highest at 1h after taking Phe, and decreased to near normal level 4h after taking Phe. The difference was significant (P <0.001). Tyr concentration in HPA group was no significant difference in each time period, the control group after serving Phe increased gradually, the time difference was significant P <0.05, after serving Phe 2h, 3h higher than the HPA group, the difference was significant (P <0.05). Phe / Tyr value HPA group were higher than the control group, the difference was significant (P <0.001). Conclusion The Phe metabolic rate in children with HPA is decreased. The determination of blood Phe concentration combined with Phe / Tyr is helpful for the diagnosis of HPA.