目的　探讨原发性肉碱缺乏症的临床和基因突变特点。方法　回顾分析2013年12月—2016年12月以串联 质谱技术新生儿筛查发现的6例原发性肉碱缺乏症及2例母源性肉碱缺乏患儿的临床资料。结果　8例患儿血游离肉碱初 筛值为（5.85±1.65）μ mol/L，召回复查值（5.22±1.02）μ mol/L，其中6例原发性肉碱缺乏症患儿采用基于Ion Torrent 半导体测序技术的遗传代谢病Panel进行基因诊断，均检测到2个等位基因致病性突变；口服左旋肉碱治疗后血游离肉碱 （20.24±3.88）μ mol/L，继续随访中；另2例母源性肉碱缺乏患儿混合喂养1周后血游离肉碱基本恢复正常，未进行基因 诊断。结论　采用串联质谱技术新生儿筛查及二代测序Panel可有效检出原发性肉碱缺乏症，早期规范治疗预后良好。

　Objective　To explore the clinical feature and gene types in patients with primary carnitine deficiency. Methods 　Clinical data of 6 patients with primary carnitine deficiency and 2 patients with maternal carnitine deficiency found in the screening by tandem mass spectrometry technology during December 2013 to December 2016 were retrospectively analyzed. Results　The free carnitine levels of 8 patients in initial and recall screening were 5.85±1.65 μmol/L and 5.22±1.02 μmol/L. Two pathogenic alleles were detected in each patient with primary carnitine deficiency by genetic and metabolic disease panel based on Ion Torrent semiconductor sequencing. After treatment with oral L-carnitine, the free carnitine levels of 6 patients with primary carnitine deficiency were 20.24±3.88 μmol/L. The carnitine levels returned to normal after mixed feeding for one week in 2 patients with maternal carnitine deficiency, and no genetic diagnosis was carried out. Conclusion　Primary carnitine deficiency can be effectively detected using tandem mass spectrometry technology and next generation sequencing panel and the prognosis is good with early standard treatment.