Neonatal Intensive Care Unit, Puericulture Institute and Neonatal Section, Department of Surgery, University of Cagliari, Italy.
Adv Clin Chem. 2012;58:193-223. doi: 10.1016/b978-0-12-394383-5.00013-8.
Metabolomics is a new approach based on the systematic study of the full complement of metabolites in a biological sample. This technology consists of two sequential steps: (1) an experimental technique, based on nuclear magnetic resonance (NMR) spectroscopy or mass spectrometry, designed to profile low-molecular-weight compounds, and (2) multivariate data analysis. The metabolomic analysis of biofluids or tissues has been successfully used in the fields of physiology, diagnostics, functional genomics, pharmacology, toxicology, and nutrition. Recent studies have evaluated how physiological variables or pathological conditions can affect metabolomic profiles of different biofluids in pediatric populations. The overall metabolic status of the neonate is little known. If more information on perinatal/neonatal maturational processes and their metabolic background were available, the management of sick or preterm newborns might be improved. Currently, the use of metabolomics in neonatology is still in the pioneering phase. Meaningful diagnostic information and simple, noninvasive collection techniques make urine a particularly suitable biofluid for metabolomic approach in neonatal medicine, although blood has also been investigated. Different fields of neonatology such as postnatal maturation, asphyxia/hypoxia, inborn errors of metabolism, nutrition, nephrouropathies, nephrotoxicity, cardiovascular diseases, and other conditions have been investigated using a metabolomic approach. Together with genomics and proteomics, metabolomics appears to be a promising tool in neonatology for the monitoring of postnatal metabolic maturation, the identification of biomarkers as early predictors of outcome, the diagnosis and monitoring of various diseases, and the "tailored" management of neonatal disorders.
代谢组学是一种基于系统研究生物样本中所有代谢物的新方法。该技术由两个连续的步骤组成：（1）一种基于核磁共振（NMR）光谱或质谱的实验技术，旨在对低分子量化合物进行分析；（2）多变量数据分析。生物流体或组织的代谢组学分析已成功应用于生理学、诊断学、功能基因组学、药理学、毒理学和营养学等领域。最近的研究评估了生理变量或病理状况如何影响儿科人群中不同生物流体的代谢组学特征。新生儿的整体代谢状况知之甚少。如果能获得更多关于围产期/新生儿成熟过程及其代谢背景的信息，可能会改善患病或早产儿的治疗效果。目前，代谢组学在新生儿学中的应用仍处于探索阶段。有意义的诊断信息和简单、非侵入性的采集技术使尿液成为新生儿医学代谢组学方法中特别适合的生物流体，尽管也研究了血液。新生儿学的不同领域，如产后成熟、窒息/缺氧、先天性代谢错误、营养、肾泌尿病、肾毒性、心血管疾病和其他疾病，都已经采用代谢组学方法进行了研究。与基因组学和蛋白质组学一起，代谢组学似乎是新生儿学中一种很有前途的工具，可用于监测产后代谢成熟、识别早期预后生物标志物、诊断和监测各种疾病，以及对新生儿疾病进行“定制”管理。
