苯丙氨酸羟化酶缺乏症患儿血氨基酸代谢组学分析

Metabolomics analysis of blood amino acid in children with phenylalanine hydroxylase deficiency

目的分析苯丙氨酸羟化酶(PAH)缺乏症患儿体内氨基酸代谢状态。方法选取扬州大学附属淮安市妇幼保健院新生儿疾病筛查中心通过筛查确诊并定期随访的42例PAH缺乏症患儿为实验组,同时选择50例健康儿童为对照组,收集两组2022年1月至12月采集的滤纸干血片,应用非衍生化液相色谱-串联质谱技术检测血液中的11种氨基酸指标,分析两组氨基酸代谢水平差异。结果与对照组相比,实验组患儿血液中苯丙氨酸、瓜氨酸、甘氨酸浓度较高,差异有统计学意义(P<0.05);亮氨酸+异亮氨酸、脯氨酸和酪氨酸浓度较低,差异有统计学意义(P<0.05)。两组丙氨酸、精氨酸、蛋氨酸、鸟氨酸和缬氨酸浓度比较,差异无统计学意义(P>0.05)。结论PAH缺乏症患儿与健康儿童血液中多种氨基酸代谢状态存在显著差异,需长期随访监测患儿体内氨基酸代谢状况,以预防氨基酸代谢紊乱对患儿造成进一步损伤。

Objective To analyze the amino acid metabolism status in children with phenylalanine hydroxylase(PAH)deficiency.Methods A total of 42 children with PAH deficiency diagnosed through screening and regularly followed up in the Neonatal Disease Screening Center of Affiliated Hospital of Yangzhou University,Huai’an Maternal and Child Health Care Center were selected as the experimental group,while 50 healthy children were selected as the control group.Their filter paper dried blood slice were collected from January to December 2022.A total of 11 amino acids in blood were detected by liquid chromatography-tanden mass spectrometry,and the differences of amino acid metabolism between the two groups were compared.Results Compared with the control group,the blood concentrations of phenylalanine,citrulline and glycine in the experimental group were higher,the differences were statistically significant(P<0.05).The blood concentrations of leucine and isoleucine,proline and tyrosine were lower,the differences were statistically significant(P<0.05).There were no significant differences in alanine,arginine,methionine,ornithine and valine concentrations between the two groups(P>0.05).Conclusion There are significant differences in the metabolic status of various amino acids in blood between children with PAH deficiency and healthy children.Long-term follow-up monitoring of amino acid metabolism is needed to prevent further damage caused by amino acid metabolism disorder.