Sun Yun, Wang Yan-Yun, Jiang Tao
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J Pediatr Endocrinol Metab. 2017 Aug 28;30(8):879-883. doi: 10.1515/jpem-2017-0002.
The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS).
Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using diagnosis panel of genetic and metabolic diseases based on Ion Torrent Semiconductor Sequencing Technology.
The initial free carnitine (C0) concentrations of the patients were 6.43±1.36 μmol/L, and the recall screening concentrations were 5.59±0.89 μmol/L. The patients were treated with oral carnitine, so the levels after treatment were 20.24±3.88 μmol/L. All patients had two pathogenic mutation alleles.
The combined application of MS/MS and a next generation sequencing panel could be used for the accurate diagnosis of PCD. The results of genetic diagnosis can guide the assisted reproductive treatment. The prognosis of PCD patients is good after early treatment.
本研究的目的是调查通过串联质谱法（MS/MS）新生儿筛查确定的原发性肉碱缺乏症（PCD）患者的临床和基因突变特征。
应用串联质谱法（MS/MS）筛查遗传性代谢疾病，在62568份样本中诊断出7例PCD患者。采用基于Ion Torrent半导体测序技术的遗传和代谢疾病诊断 panel 检测SLC22A5基因。
患者初始游离肉碱（C0）浓度为6.43±1.36μmol/L，召回筛查浓度为5.59±0.89μmol/L。患者接受口服肉碱治疗，治疗后水平为20.24±3.88μmol/L。所有患者均有两个致病突变等位基因。
MS/MS与下一代测序 panel 的联合应用可用于PCD的准确诊断。基因诊断结果可指导辅助生殖治疗。PCD患者早期治疗后预后良好。
