Background Metabolomics is the study of small molecules to simultaneously identify multiple low molecular weight molecules in a system. Broadly speaking, metabolomics can be subdivided into targeted and untargeted types of analysis, each type having advantages and drawbacks. Targeted metabolomics can quantify analytes but only looks for known or expected analytes related to particular disease(s), whereas untargeted metabolomics is typically nonquantitative but can detect thousands of analytes from an agnostic or nonhypothesis driven perspective, allowing for novel discoveries. Content One application of metabolomics is the study of inborn errors of metabolism (IEM). The biochemical hallmark of IEMs is decreased concentrations of analytes distal to the enzymatic defect and buildup of analytes proximal to the defect. Metabolomics can detect these changes with one test and is effective in screening for and diagnosis of IEMs. Metabolomics has also been used to study many nonmetabolic diseases such as autism spectrum disorder, various cancers, and multiple congenital anomalies syndromes. Metabolomics has led to the discovery of many novel biomarkers of disease. Recent publications demonstrate how metabolomics can be useful clinically in the diagnosis and management of patients, as well as for research and clinical discovery. Summary Metabolomics has proved to be a useful tool clinically for screening and diagnostic purposes and from a research perspective for the detection of novel biomarkers. In the future, metabolomics will likely become a routine part of the evaluation for many diseases as either a supplementary test or it may simply replace historical analyses that require several individual tests and sample types.

中文翻译：

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临床实践中的代谢组学：改进诊断和通知管理

背景代谢组学是对小分子的研究，以同时识别系统中的多个低分子量分子。从广义上讲，代谢组学可以细分为靶向和非靶向分析类型，每种类型都有优点和缺点。靶向代谢组学可以量化分析物，但仅寻找与特定疾病相关的已知或预期分析物，而非靶向代谢组学通常是非定量的，但可以从不可知论或非假设驱动的角度检测数千种分析物，从而获得新发现。内容 代谢组学的一项应用是研究先天性代谢错误（IEM）。IEM 的生化标志是酶缺陷远端分析物浓度降低和缺陷近端分析物积累。代谢组学可以通过一次测试来检测这些变化，并且可以有效地筛查和诊断 IEM。代谢组学还被用于研究许多非代谢性疾病，例如自闭症谱系障碍、各种癌症和多种先天性异常综合征。代谢组学已导致发现许多新的疾病生物标志物。最近的出版物展示了代谢组学如何在临床上用于患者的诊断和管理，以及研究和临床发现。摘要 代谢组学已被证明是临床上用于筛查和诊断目的的有用工具，从研究的角度来看，它可用于检测新的生物标志物。在将来，