摘要目的 初步探索新生儿及母亲原发性肉碱吸收障碍发病情况和诊治随访效果.方法 采用串联质谱方法,对164245名新生儿进行原发性肉碱吸收障碍筛查,并对初筛可疑阳性的新生儿母亲进行串联质谱检查,对确诊为原发性肉碱吸收障碍的病例进行治疗、随访及临床分析.结果 新生儿初筛可疑阳性55例,确诊原发性肉碱吸收障碍新生儿4例,母亲3例.新生儿原发性肉碱吸收障碍发病率为1∶40076,经治疗随访,发育正常；母亲原发性肉碱吸收障碍经治疗游离肉碱水平增加.结论 串联质谱技术可筛查新生儿及母亲原发性肉碱吸收障碍,早期治疗预后良好.

abstractsObjective To explore the screening and therapeutic efficacy of primary carnitine deficiency (PCD) in newborns and mothers.Methods 164245 newborns and suspected mothers were investigated for PCD by tandem mass spectrometry (MS/MS).The overall epidemiology,prognosis,and follow-up of the screening program were investigated.Results Totally 55 suspected cases were identified at the primary screening stage.Four newborns and three mothers were confirmed as cases of PCD.The incidence rate of newborns was 1 ∶ 40076.All the patients showed normal growth and development during the follow-up.Blood free carnitine level was raised in all three mothers after treatment.Conclusions Screening for PCD with MS/MS in newborns may represent a valuable procedure in preventive medicine by enabling early diagnosis and treatment before the onset of symptoms.This protocol is also highly efficient and applicable in diagnosis of mothers with PCD.