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Abstract：
Inborn errors of metabolism (IEMs) are a group of disorders caused by disruption of metabolic pathways, which leads to accumulation, decreased circulating levels, or increased excretion of metabolites as a consequence of the underlying genetic defects. These heterogeneous groups of disorders cause significant neonatal and infant mortality across the whole world and it is of utmost concern for developing countries like India owing to lack of awareness and standard preventive strategies like newborn screening (NBS). Though the predictive cumulative incidence of IEMs is said to be ∼1:800 newborns, data pertaining to the true prevalence of individual IEMs is not available in the context of Indian population. There is a need for a large population-based study to get a clear picture of the prevalence of different IEMs. One of the best ways to screen for IEMs is by applying advanced liquid chromatography-mass spectrometry (LC-MS) technology using a quantitative metabolomics approaches such as selected or multiple reaction monitoring (SRM or MRM). Recent developments in LC-MS/MRM based quantification of marker metabolites in newborns have opened a novel opportunity to screen multiple disorders simultaneously from a minuscule volume of biological fluids. In this review article, we have highlighted how LC-MS/MRM based metabolomics approach with its high sensitivity and diagnostic capability can make an impact on the nation\'s public health through NBS programs.
摘要：
先天性代谢错误（IEM）是一组由代谢途径中断引起的疾病，这导致了积累，循环水平降低，或由于潜在的遗传缺陷而导致的代谢物排泄增加。这些异质性的疾病群体在全世界造成大量的新生儿和婴儿死亡率，由于缺乏意识和标准的预防策略，如新生儿筛查（NBS），这是印度等发展中国家最关注的问题。虽然IEM的预测累积发生率据说是~1:800新生儿，在印度人口的背景下，没有与单个IEM的真实患病率有关的数据。需要进行大规模的基于人群的研究，以清楚地了解不同IEM的流行情况。筛选IEM的最佳方法之一是应用先进的液相色谱-质谱（LC-MS）技术，使用定量代谢组学方法，例如选择或多反应监测（SRM或MRM）。基于LC-MS/MRM的新生儿标记代谢物定量的最新进展为从微小体积的生物流体中同时筛查多种疾病开辟了新的机会。在这篇评论文章中，我们强调了基于LC-MS/MRM的代谢组学方法及其高灵敏度和诊断能力如何通过NBS计划对国家公共卫生产生影响.
