title: [Metabolomics in diagnosing metabolic diseases].
abstract: Metabolomics, i.e. the systematic identification and quantitation of low-molecular weight compounds in a certain cell, a tissue or a body fluid is increasingly recognized as the most relevant approach in functional genomics. Long-standing positive experience in routine diagnostics of inborn errors of metabolism and analytical innovations leading to improved sensitivity and reproducibility of quantitative multiparametric assays now pave the way for further diagnostic use of metabolomics. This article summarizes the scientific and technological background of the current boost in metabolomics and describes some use cases in which high-resolution metabolic analyses demonstrate their potential for future clinical applications.
authors.affiliation: Biocrates Life Sciences AG, Innsbruck. klaus.weinberger@biocrates.com
authors.forename: Klaus M
authors.initials: KM
authors.lastname: Weinberger
mesh_terms: D015415:Biomarkers / Q000032:analysis; D019411:Clinical Laboratory Techniques / Q000639:trends*; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000378:metabolism*; D020543:Proteome / Q000032:analysis*; D040901:Proteomics / Q000379:methods* / Q000639:trends*
chemical_list: D015415:Biomarkers; D020543:Proteome