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首页> 外文期刊>International Journal of Neonatal Screening >Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges
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Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

机译：中链酰基辅酶A缺乏症的新生儿筛查—见解和意外挑战

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摘要

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening for MCADD effectively exemplifies the unexpected challenges of increased diagnosis by screening programs. MS/MS-based screening revealed an at least 2-fold higher incidence than expected with a considerable share of individuals showing mild biochemical alterations and/or novel mutations with unknown clinical significance. Whether these individuals are at lower risk to experience metabolic decompensations is a matter of ongoing debate. Defining patients, stratifying them according to their clinical risk, and adopting treatment protocols is an as yet unmet challenge in neonatal screening for MCADD.
机译：随着串联质谱（MS / MS）的实施，全世界许多筛查计划都已引入了新生儿中链酰基辅酶A脱氢酶（MCADD）筛查。 MCADD与苯丙酮尿症一起是最常被诊断的疾病。尽管对发病率和死亡率具有不可否认的有益影响，但对MCADD的新生儿筛查有效地体现了筛查程序对增加诊断率的预料不到的挑战。基于MS / MS的筛查显示，其发生率比预期高至少2倍，相当一部分个体显示出轻度的生化改变和/或具有未知临床意义的新型突变。这些人是否经历代谢失代偿的风险较低，这是一个不断争论的问题。在MCADD新生儿筛查中，定义患者，根据其临床风险对他们进行分层以及采用治疗方案是尚未遇到的挑战。

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