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目的:分析一例肉碱棕榈酰转移酶1A(carnitine palmitoyl transferase 1A，CPT1A)缺乏症患儿的临床资料、代谢筛查和基因变异特征，探讨该病的诊断要点和分子遗传学发病机制。方法:收集2018年5月就诊于湖南省儿童医院神经内科的一例以癫痫起病的CPT1A缺乏症患儿的临床资料及其血液酰基肉碱结果，采集患儿和父母外周血，提取DNA行基因检测。结果:血液酰基肉碱谱提示游离肉碱(carnitine 0，C0)升高，C0/(C16＋C18)明显升高。基因测序结果显示患儿n CPT1A基因c.1846G>A和c.2201T>C复合杂合变异，母亲携带c.1846G>A变异，父亲携带c.2201T>C变异。n 结论:本例CPT1A缺乏症患者以癫痫为第一临床表现发病，国内外暂未见相关报道。血液酰基肉碱分析是筛查和诊断CPT1A缺乏症的必要条件，二代测序有助于该病的确诊。n CPT1A基因c.1846G>A和c.2201T>C变异可能为该患儿致病原因，c.1846G>A变异为未报道过的新变异，丰富了n CPT1A基因变异谱。n “,”Objective:To report on the clinical, metabolic and genetic characteristics of a child with carnitine palmitoyl transferase 1A (CPT1A) deficiency.Methods:Clinical data and the level of acylcarnitine for a child who initially presented as epilepsy were analyzed. Genomic DNA was extracted from peripheral blood samples of the child and her parents and subjected to next-generation sequencing (NGS).Results:Mass spectrometry of blood acylcarnitine indicated increased carnitine 0 (C0) and significantly increased C0/(C16+ C18). DNA sequencing revealed that the child has carried compound heterozygous variants of the n CPT1A gene, namely c. 1846G>A and c. 2201T>C, which were respectively inherited from her mother and father.n Conclusion:CPT1A presenting initially as epilepsy was unreported previously. Analysis of blood acylcarnitine C0 and C0/(C16 + C18) ratio and NGS are necessary for the identification and diagnosis of CPT1A deficiency. The c. 1846G>A and c. 2201T>C variants of then CPT1A gene probably underlay the disease in this child. Above finding has also enriched the spectrum of n CPT1A gene variants.n