闽东地区新生儿血液串联质谱游离肉碱水平临床观察

Clinical observation of blood free carnitine levels in neonates in Mindong area by tandem mass spectrometry

目的观察闽东地区新生儿体内游离肉碱浓度水平,为临床判读有机酸血症和脂肪酸β氧化代谢障碍性疾病提供帮助。方法利用串联质谱技术对闽东地区接受遗传代谢病筛查的17 509例正常新生儿初筛样本,依据性别、胎龄、出生体重、采血时间进行分组分析。结果游离肉碱水平在性别上存在差异,男婴高于女婴;早产儿游离肉碱水平高于足月儿,并且呈现胎龄越小游离肉碱水平越高的趋势;低出生体重儿体内游离肉碱水平高于正常体重儿,并且呈现体重越低游离肉碱水平越高的趋势;不同采血时间组间差异,随采血时间延长,游离肉碱水平渐高趋势。结论在应用串联质谱技术进行有机酸血症和脂肪酸β-氧化代谢障碍性疾病筛查时应根据性别、胎龄、出生体重、采血日龄等不同,选择适宜的参考值范围结合检测指标的多个比值综合判断。

Objective：Observation of the blood free carnitine levels in neonates in Mindong area to help clinical evaluation of organic acidemias and fatty acid β-oxidative metabolic diseases. Methods：Samples from 17,509 normal neonates in Mindong area who were screened for genetic metabolism diseases were grouped and analysed according to gender,gestational age,birth weight and blood collection time by using tandem mass spectrometry. Results：Blood levels of free carnitine were found different between groups with some trends. The level of free carnitine in preterm infants was higher than that of term infants,the higher the gestational ages the lower the levels of free carnitine;The level of free carnitine in low bodyweight infants was higher than that in normal body weight,the lower the body weight the higher the level of free carnitine;Trend was also observed with the time of blood collection,free carnitine level was gradually increased with longer blood collection time. Conclusions：When screening organic acidemias and fatty acid β-oxidative metabolic disorders in neonates by using tandem mass spectrometry technology,the appropriate reference ranges based on different gender,gestational age,birth weight,blood collection time,etc. should be selected and the values of these multiple references should be evaluated comprehensively together.