目的 确立宣城市新生儿滤纸干血片中31种酰基肉碱的参考区间,为临床诊断脂肪酸和有机酸类遗传代谢病提供诊断依据。方法 选取2020年1—6月宣城地区6 093例新生儿滤纸干血片样本,采用非衍生化串联质谱法进行 31种酰基肉碱水平测定,通过SPSS 22.0软件进行统计分析,采用单样本Kolmogorov - Smirnov检验判断数据正态性,应用百分位数法制定参考区间,选用第99.5百分位值与第0.5百分位值作为切值的上下限。结果 宣城地区31种酰基肉碱为非正态分布,参考区间P_0.5~P_99.5分别为(μmol/L):游离肉碱(9.11~48.60),乙酰基肉碱(4.01~37.12),丙酰基肉碱(0.54~4.30),丙二酰基肉碱(0.03~0.27),丁酰基肉碱(0.10~0.46),甲基丙二酰基肉碱(0.09~0.38),异戊酰基肉碱(0.05~0.36),甲基巴豆酰基肉碱 (0.00~0.01),戊二酸基肉碱(0.05~0.19),己酰基肉碱(0.01~0.09),己二酰基肉碱(0.03~0.30),辛酰基肉碱(0.02~0.14),辛烯酰基肉碱(0.05~0.28),癸酰基肉碱(0.02~0.21),癸烯酰基肉碱(0.02~0.14),癸烯二酰基肉碱(0.00~0.03),十二烷酰基肉碱(0.02~0.23),十二烯酰基肉碱(0.01~0.17),十四烷酰基肉碱(0.06~0.34),十四烯酰基肉碱(0.03~0.21),十四二烯酰基肉碱(0.01~0.04),3-羟基十四烷酰基肉碱(0.00~0.03),十六烷酰基肉碱(0.71~6.14),十六烯酰基肉碱(0.03~0.36),3-羟基十六烯酰基肉碱(0.01~0.10),3-羟基十六烷酰基肉碱(0.01~0.04),十八烷酰基肉碱(0.28~1.62),十八烯酰基肉碱(0.49~2.45),3-羟基十八烯酰基肉碱(0.01~0.03),十八二烯酰基肉碱(0.06~0.53),3-羟基十八烷酰基肉碱(0.00~0.02)。结论 通过非衍生化串联质谱法检测确立宣城市新生儿滤纸干血片中31种酰基肉碱的参考区间,可为该地区临床诊断脂肪酸和有机酸类遗传代谢病提供诊断参考依据,更有利于新生儿遗传代谢病的群体筛查。

Objective To establish the reference interval of 31 kinds of acyl carnitines in the dry blood filter paper of Xuancheng newborn infants to provide diagnostic basis for the clinical diagnosis of fatty acid and organic acid genetic metabolic diseases. Methods 6093 newborn infants’ filter paper dried blood samples were selected from January to June in 2020 in Xuancheng City.The levels of 31 kinds of acyl carnitines were determined by non-derivatized tandem mass spectrometry.Statistical analysis was performed by SPSS 22.0 software.A single sample Kolmogorov-Smirnov test was used to judge the normality of the data.The percentile method was used to formulate the reference interval,and the 99.5th percentile value and the 0.5th percentile value were selected as the upper and lower limits of the cut-off value. Results The 31 kinds of acylcarnitine in Xuancheng City were non-normal distributed,and the reference intervals P0.5~P99.5 were (μmol/L) : free carnitine (9.11-48.60),acetylcarnitine (4.01-37.12),propionyl carnitine (0.54-4.30),malonyl carnitine (0.03-0.27),butyl carnitine (0.10-0.46),methyl propionyl carnitine (0.09-0.38),isovaleryl carnitine (0.05-0.36),methyl crotonyl carnitine (0.00-0.01),glutaric carnitine (0.05-0.19),hexyl carnitine (0.01-0.09),hexanoyl carnitine (0.03-0.30),octanoyl carnitine (0.02-0.14),octenyl carnitine (0.05-0.28),decanoyl carnitine (0.02-0.21),decenoyl carnitine (0.02-0.14),decenediacyl carnitine (0.00-0.03),dodecyl carnitine (0.02-0.23),dodecyl carnitine Alkali (0.01-0.17),tetradecanoyl carnitine (0.06-0.34),tetradecenoyl carnitine (0.03-0.21),tetradecadienoyl carnitine (0.01-0.04),3-hydroxytetradecyl carnitine (0.00-0.03),cetyl carnitine (0.71-6.14),cetenoyl carnitine (0.03-0.36),3-hydroxycetenoyl carnitine (0.01-0.10),3-hydroxycetanoyl carnitine (0.01-0.04),octadecanoyl carnitine (0.28-1.62),octadecenoyl carnitine (0.49-2.45),3-hydroxyoctadecenoyl carnitine (0.01-0.03),octadecdienoyl carnitine (0.06-0.53),3-hydroxyoctadecanoyl carnitine (0.00-0.02). Conclusion The reference interval of 31 kinds of acyl carnitines in neonatal filter paper dry blood tablets in Xuancheng City was established by non-derivatived tandem mass spectrometry,which can provide diagnostic reference basis for clinical diagnosis of fatty acid and organic acid genetic metabolic diseases in this area,and is more conducive to population screening of neonatal genetic metabolic diseases.