探讨串联质谱技术在遗传代谢病诊断中的应用价值

Application Value of Tandem Mass Spectrometry in Diagnosis of Genetic Metabolic Diseases

目的:探讨串联质谱技术联合丙酰肉碱(C3)、乙酰肉碱(C2)、C3/C2和蛋氨酸(Met)检测在遗传代谢病诊断中的应用价值。方法:选取2014年1月-2022年11月在烟台市烟台山医院检验科筛查并确诊的甲基丙二酸血症患儿14例为研究组,选取同期健康儿童30例为对照组。比较两组C3/C2和Met水平,苯丙酮尿症单一检测和联合检测可疑阳性[苯丙氨酸(Phe)、酪氨酸(Tyr)、Phe/Tyr],原发性肉碱缺乏症患儿初筛时与治疗后水平[游离肉碱(C0)、C2]。结果:研究组C3/C2比值高于对照组,研究组Met水平低于对照组,差异有统计学意义(P<0.05);实验方法Phe、TYr、Phe/Tyr联合检测阳性预测值高于Phe检测,差异具有统计学意义(P=0.021);治疗后C0、C2水平高于初筛时水平,差异具有统计学意义(P<0.05)。结论:甲基丙二酸血症C3/C2和Met联合判读对甲基丙二酸血症诊断精准;苯丙酮尿症Phe、Tyr、Phe/Tyr联合指标判读有效降低了可疑患儿的召回率;原发性肉碱缺乏症治疗前与治疗后C0、C2值比对有利于鉴别与原发性肉碱、母源性肉碱。串联质谱技术在遗传代谢病诊断中具有应用价值。

Objective:To explore the application value of tandem mass spectrometry combined with the detection of propionylcarnitine(C3),acetylcarnitine(C2),C3/C2 and methionine(Met)in the diagnosis of genetic metabolic diseases.Methods:From January 2014 to November 2022,14 children with methylmalonic acidemia,screened and confirmed in Department of Clinical Laboratory,Yantai Mountain Hospital were selected as the study group.Thirty healthy children during the same period were selected as the control group.The C3/C2 and Met levels in the two groups were compared,and the single detection and combined detection[phenylalanine(Phe),tyrosine(Tyr),Phe/Tyr]for phenylketonuria were suspected positive,and the levels of children with primary carnitine deficiency at initial screening and after treatment[free carnitine(C0),C2]were compared.Results:The C3/C2 ratio in the study group was higher than that in the control group,and the Met level in the study group was lower than that in the control group,and the difference was statistically significant(P<0.05).The positive predictive values of Phe,TYR,and Phe/Tyr combined detection were higher than those of Phe detection,and the difference was statistically significant(P<0.05).The levels of C0 and C2 after treatment were higher than those at the initial screening,and the differences were statistically significant(P<0.05).Conclusion:The combined interpretation of methylmalonic acidemia C3/C2 and Met is accurate in the diagnosis of methylmalonic acidemia.The combined interpretation of phenylketonuria Phe,Tyr and Phe/Tyr can effectively reduce the recall rate of suspicious children.The comparison of C0 and C2 before and after treatment of primary carnitine deficiency is helpful to differentiate primary carnitine deficiency from maternal carnitine deficiency.Tandem mass spectrometry has application value in the diagnosis of genetic metabolic diseases.