二例极长链基辅酶A脱氢酶缺乏症临床及基因突变分析

Analysis of clinical data and genetic mutations in two Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

目的探讨2例极长链酰基辅酶A脱氢酶缺乏(VLCADD)的临床特征、实验室检查及基因型特点。方法通过血串联质谱、尿气相色谱、基因突变确诊2例VLCADD患儿,并对患儿临床表型和基因型进行讨论和分析。结果 2例患儿临床表现无明显异常,均通过新生儿代谢性疾病筛查得以早期诊断和治疗。血串联质谱均有十四烯酰基肉碱(C14:1)特异性升高。2例中共检出4种ACADVL基因突变,基因型包括c.1349G>A(p.R450H)、c.644-647 del GTCT(p.C215Xfs*1)c.553G>A(p.G185S)、c.1748C>T(p.S583L)。2例患儿均为第二胎。患儿父母及例1的胞姐均为携带者。结论遗传代谢病筛查实验结合高通量基因测序诊断对VLCADD的早发现、早干预,提升患儿疗效和生活质量有重要意义。

Objective：To investigate the clinical,laboratory features and genotype of 2 Shanxi patients with very long chain acyl-Co A dehydrogenase deficiency（VLCADD）. Methods：Two patients were diagnosed as VLCADD by tandem mass spectrometry（MS-MS）,gas chromatography mass spectrometry（GC-MS）and genetic analysis Then the analysis of clinical features and enotype were conducted. Results：The two patients were diagnosed through neonatal screening for inherited metabolic diseases and their clinical manifestation are almost normal.All cases had elevated levels of blood tetradecanoylearnitine（C14：1）recognized as the characteristic biomarker for VLCADD. Among 2 patients,four different mutations in the ACADVL gene were identified,which included c.1349 GA（p.R450 H）,c.644-647 del GTCT（p.C215 Xfs＊1）c.553 GA（p.G185 S）,c.1748 CT（p.S583 L）,They were all reported. All patients were a second child,their parents and the sister of case 1 were carriers. Conclusion：Inherited metabolic disease screening and high-throughput gene sequencing play an important role in the diagnosis of clinica I diseases. The earlier diagnosis and treatment of VLCADD are of vital importance for the improvement of the prognosis of the patients.