Babu Ruby P, Bishnupriya G, Thushara P K, Alap Christy, Cariappa Rohit, Viswanathan Kasi
NeoGen Labs Pvt. Ltd., India.
Thyrocare Labs, Navi Mumbai, India.
Mol Genet Metab Rep. 2015 May 14;3:75-9. doi: 10.1016/j.ymgmr.2015.04.002. eCollection 2015 Jun.
Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem mass (MS/MS) spectrometer, specifically the Abbott (AB) Sciex 3200, in the screening for GA1 using dried blood spots. A total of 17,100 specimens, comprising pediatric patients and healthy newborns, were screened from June 2012 to June 2014. A selection criterion was applied to increase the range of samples tested. 14 of the total specimens tested presumptive positive for GA1, of whom all were symptomatic. The diagnosis was confirmed in 4 of the 14 cases and they were started on treatment. 4 cases expired before confirmation. The remaining cases were empirically started on treatment. Most of the patients responded favorably to the dietary management. One important observation was that the older symptomatic children diagnosed with GA1 had poorer outcomes in terms of recovery of delayed milestones and mental deterioration, further emphasizing the need for early diagnosis of organic acidemias along with the other biochemical defects. Tandem mass spectrometry was found to be more than 93.33% sensitive and more than 99.42% specific. The screening test proved to be very simple and economical.
1型戊二酸血症（GA1）是一种罕见的遗传性代谢紊乱疾病，因其潜伏期和症状不明显而常常漏诊。一项初步临床研究旨在评估串联质谱仪（MS/MS），特别是雅培（AB）Sciex 3200，在使用干血斑筛查GA1中的实用性、特异性和敏感性。2012年6月至2014年6月期间，共筛查了17100份标本，包括儿科患者和健康新生儿。应用了一项选择标准以扩大测试样本范围。在总共检测的标本中，有14份GA1检测结果为推定阳性，其中所有患者均有症状。14例中有4例确诊，并开始接受治疗。4例在确诊前死亡。其余病例根据经验开始治疗。大多数患者对饮食管理反应良好。一项重要观察结果是，年龄较大的GA1症状性儿童在延迟发育里程碑恢复和智力衰退方面的预后较差，这进一步强调了早期诊断有机酸血症以及其他生化缺陷的必要性。串联质谱法的敏感性超过93.33%，特异性超过99.42%。筛查试验被证明非常简单且经济。
