Metabolomic approaches to phenotype characterization and applications to complex diseases

Expert Rev Mol Diagn. 2006 Jul;6(4):575-85. doi: 10.1586/14737159.6.4.575.


Metabolites are the key regulators of systems homeostasis. As such, concentration changes of specific groups of metabolites may reflect systemic responses to environmental, therapeutic or genetic interventions. Thus, the study of metabolites is a powerful tool for the characterization of complex phenotypes as well as for the development of biomarkers for specific physiological responses. Therefore, metabolomics is a valuable platform for studies of complex diseases and the development of new therapies, both in nonclinical disease model characterization and clinical settings.

Publication types

  • Review

MeSH terms

  • Animals
  • Biochemical Phenomena
  • Biochemistry
  • Biomarkers / chemistry*
  • Biomedical Research
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / therapy*
  • Genotype
  • Homeostasis
  • Humans
  • Lipids / chemistry
  • Mice
  • Molecular Biology
  • Phenotype
  • Proteomics / methods*
  • Systems Biology


  • Biomarkers
  • Lipids