title: The role of metabolomics in neonatal and pediatric laboratory medicine.
abstract: Metabolomics consists of the quantitative analysis of a large number of low molecular mass metabolites involving substrates or products in metabolic pathways existing in all living systems. The analysis of the metabolic profile detectable in a human biological fluid allows to instantly identify changes in the composition of endogenous and exogenous metabolites caused by the interaction between specific physiopathological states, gene expression, and environment. In pediatrics and neonatology, metabolomics offers new encouraging perspectives for the improvement of critically ill patient outcome, for the early recognition of metabolic profiles associated with the development of diseases in the adult life, and for delivery of individualized medicine. In this view, nutrimetabolomics, based on the recognition of specific cluster of metabolites associated with nutrition and pharmacometabolomics, based on the capacity to personalize drug therapy by analyzing metabolic modifications due to therapeutic treatment may open new frontiers in the prevention and in the treatment of pediatric and neonatal diseases. This review summarizes the most relevant results published in the literature on the application of metabolomics in pediatric and neonatal clinical settings. However, there is the urgent need to standardize physiological and preanalytical variables, analytical methods, data processing, and result presentation, before establishing the definitive clinical value of results.
authors.affiliation: Laboratory Medicine Service, IRCCS AOU San Martino-IST, University-Hospital, National Institute for Cancer Research, Genova, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Mussap
authors.forename: Roberto
authors.initials: R
authors.lastname: Antonucci
authors.forename: Antonio
authors.initials: A
authors.lastname: Noto
authors.forename: Vassilios
authors.initials: V
authors.lastname: Fanos
mesh_terms: D002648:Child; D006801:Humans; D007231:Infant, Newborn; D013677:Medical Laboratory Science / Q000379:methods*; D055442:Metabolome; D055432:Metabolomics
keywords: (1)H NMR; ADMA; ADP; AGA; AKD; AKI; AMP; BALF; BMI; CE; CKD; CLD; CSF; DIMS; ELBW; ESRD; FTIR; Fourier transform infrared spectroscopy; GC–MS; HIE; HMDB; HVA-SO(4); ICU; IQ; IUGR; LBW; LC–MS; MDA; MMA; MS; Mass spectrometry; Metabolomics; Nutrimetabolomics; OPLS-DA; PA; PCA; PDA; PLS-DA; Pharmametabolomics; Proton nuclear magnetic resonance spectroscopy; RCDs; RDS; Respiratory Distress Syndrome (hyaline membrane disease); SGA; System biology; TMAO; VLBW; VOCs; acute kidney disease; acute kidney injury; adenosine diphosphate; adenosine monophosphate; appropriate for gestational age; asymmetric dimethylarginine; body mass index; bronchoalveolar lavage fluid; capillary electrophoresis; cerebrospinal fluid; chronic kidney disease; chronic lung disease; direct injection mass spectrometry; end stage renal disease; extreme low birth weight; gas chromatography–mass spectrometry; homovanillic acid sulfate; human metabolome data base; hypoxic ischemic encephalopathy; intelligence quotient; intensive care unit; intrauterine growth restricted; liquid chromatography–mass spectrometry; low birth weight; malondialdehyde; mass spectrometry; methylmalonic acidemia; orthogonal projections to latent structures for discriminant analysis; patent ductus arteriosus (Botallo's duct); principal component analysis; projection to latent structures discriminant analysis; propionic acidemia; proton nuclear magnetic resonance; respiratory chain deficiencies; small for gestational age; trimethylamine-N-oxide; very low birth weight; volatile organic compounds