Noto Antonio, Fanos Vassilios, Dessì Angelica
University of Cagliari, Cagliari, Italy.
University of Cagliari, Cagliari, Italy.
Adv Clin Chem. 2016;74:35-61. doi: 10.1016/bs.acc.2015.12.006. Epub 2016 Jan 19.
Metabolomics is the quantitative analysis of a large number of low molecular weight metabolites that are intermediate or final products of all the metabolic pathways in a living organism. Any metabolic profiles detectable in a human biological fluid are caused by the interaction between gene expression and the environment. The metabolomics approach offers the possibility to identify variations in metabolite profile that can be used to discriminate disease. This is particularly important for neonatal and pediatric studies especially for severe ill patient diagnosis and early identification. This property is of a great clinical importance in view of the newer definitions of health and disease. This review emphasizes the workflow of a typical metabolomics study and summarizes the latest results obtained in neonatal studies with particular interest in prematurity, intrauterine growth retardation, inborn errors of metabolism, perinatal asphyxia, sepsis, necrotizing enterocolitis, kidney disease, bronchopulmonary dysplasia, and cardiac malformation and dysfunction.
代谢组学是对大量低分子量代谢物进行定量分析,这些代谢物是生物体中所有代谢途径的中间产物或终产物。在人体生物流体中可检测到的任何代谢谱都是由基因表达与环境之间的相互作用引起的。代谢组学方法提供了识别代谢物谱变化的可能性,这些变化可用于鉴别疾病。这对于新生儿和儿科研究尤为重要,特别是对于重症患者的诊断和早期识别。鉴于健康和疾病的新定义,这一特性具有重要的临床意义。本综述强调了典型代谢组学研究的工作流程,并总结了新生儿研究中获得的最新结果,特别关注早产、宫内生长迟缓、先天性代谢缺陷、围产期窒息、败血症、坏死性小肠结肠炎、肾脏疾病、支气管肺发育不良以及心脏畸形和功能障碍。