Diagnosis of inborn errors of metabolism by metabolomics approach

The implementation of metabolomics has become an important tool in clinical research and diagnosis of human diseases. Metabolomics is focused on the comprehensive characterization of the small molecule metabolites (filing. Targeted metabolomic can be applied for the diagnosis of various inborn errors of metabolism (IEM). Untargeted metabolomic or metabolite profiling screening has already led to the discovery of several novel IEMs and the identification of novel IEM biomarkers.Materials & Methods: Measurement techniques Mass Spectrometry (MS) and Nuclear Magnetic Resonance (NMR) are the most frequently employed methods of detection in the analysis of the metabolome. To reduce the complication of target samples before MS analysis, MS is employed in combination with prefractionation methods such as gas chromatography (GC), liquid chromatography (LC) and capillary electrophoresis (CE).Results: GC/MS has been extensively used in metabolome analysis because of its high separation efficiency that can resolve very complex biological mixtures. By LC/MS, molecular identification and quantification of polar and neutral metabolites can be achieved, even when they are present at relatively low concentrations levels and in a complex matrix. CE is a powerful technique for the separation of charged metabolites, offering high-resolution analyte. CE-MS provides an ideal tool for most metabolomics studies.Conclusion & discussion: However, use of metabolomics to aid in IEM biomarkers discovery or in diagnosis patients with IEM, becoming difficult to appropriately identify metabolites from the complex MS and NMR spectra collected from these patients. For this reason, extensive open access metabolite databases that provide up to date information about metabolites and its metabolic pathways, normal and pathologic metabolite concentrations and reference NMR or MS spectra for compound identification are essential

Keywords:

Diagnosis , Inborn errors of metabolism , Laboratory , Mass spectrometry , metabolome , metabolomics