葡萄糖-6-磷酸脱氢酶缺乏症患儿11种氨基酸谱的变化研究

Study on the changes of 11 kinds of amino acid spectra in children with G6PD

目的探讨葡萄糖-6-磷酸脱氢酶缺乏症患儿体内氨基酸水平的变化,寻求葡萄糖-6-磷酸脱氢酶缺乏症新的诊断依据。方法对新生儿干血片进行11种氨基酸即丙氨酸、缬氨酸、甘氨酸、鸟氨酸、精氨酸、亮氨酸+异亮氨酸+羟基脯氨酸、甲硫氨酸、苯丙氨酸、酪氨酸、瓜氨酸和脯氨酸的浓度检测以及各氨基酸间比值的计算,比较58例确诊为葡萄糖-6-磷酸脱氢酶缺乏症患儿发生黄疸和黄疸治疗恢复氨基酸浓度和氨基酸比值变化进行统计分析,再以58例正常新生儿与葡萄糖-6-磷酸脱氢酶缺乏症黄疸恢复氨基酸浓度和氨基酸比值变化进行统计分析。结果葡萄糖-6-磷酸脱氢酶缺乏症黄疸患儿样本中发现丙氨酸(ALA)、苯丙氨酸(PHE)、酪氨酸(TYR)、缬氨酸(VAL)和脯氨酸(PRO)浓度较黄疸恢复浓度升高,精氨酸(ARG)浓度降低,ARG/PHE比值降低,差异均有统计学意义(P<0. 05);而甘氨酸、鸟氨酸、亮氨酸+异亮氨酸+羟基脯氨酸、甲硫氨酸、瓜氨酸浓度及VAL/PHE比值变化差异无统计学意义(P>0. 05)。葡萄糖-6-磷酸脱氢酶缺乏症黄疸恢复后所有氨基酸较正常新生儿的浓度水平差异无统计学意义(P>0. 05),但ARG/PHE比值变化差异有统计学意义(P<0. 05),且有53. 55%的样本ARG/PHE比值仍减低,只有46. 45%的样本ARG/PHE比值在正常参考范围内。结论可以通过滤纸干血片中丙氨酸浓度水平变化和ARG/PHE比值来协助葡萄糖-6-磷酸脱氢酶缺乏症诊断。

Objective To explore the changes of 11 kinds of amino acid spectra in children with G6 PD,seek the new diagnostic basis for G6 PD. Methods Eleven amino acids( alanine,valine,glycine,ornithine,arginine,leucine,isoleucine,hydroxyproline,methionine,phenylalanine,tyrosine) were detected in neonatal dry blood tablets. The ratios of 11 amino acids were detected. The changes of amino acid concentration and ratio in 58 children with G6PD during jaundice phase and treatment of jaundice were compared,then the results were compared with those of 58 normal neonates. Results Among the children with G6 PD,compared with recovery phase of jaundice,the concentrations of alanine( Ala),phenylalanine( Phe),tyrosine( Tyr),and proline( Pro) increased,the concentration of arginine( Arg) and the ratio of Arg/Phe decreased during jaundice phase( P<0. 05), there was no statistically significant difference in the concentrations of glycine,ornithine,leucine+isoleucine+hydroxyproline,methionine,citrulline and Val/Phe ratio( P > 0. 05). After recovery of jaundice,there was no statistically significant difference in the concentrations of 11 amino acids between the children with G6PD and normal children( P>0. 05). There was statistically significant difference in change of Arg/Phe ratio between the children with G6PD and normal children( P<0. 05). Arg/Phe ratio decreased in 53. 55% of the children,Arg/Phe ratio was within the normal reference range in 46. 45% of the children. Conclusion The changes of alanine concentration and Arg/Phe ratio in filter paper dry blood tablets can be used to assist in diagnosis of G6PD.