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- Title
Inborn errors of metabolism: the flux from Mendelian to complex diseases.
- Authors
Lanpher, Brendan; Brunetti-Pierri, Nicola; Lee, Brendan
- Abstract
Inborn errors of metabolism are characterized by dysregulation of the metabolic networks that underlie development and homeostasis, and constitute an important and expanding group of genetic disorders in humans. Diagnostic methods that are based on molecular genetic tools have a limited ability to correlate phenotypes with subtle changes in metabolic fluxes. We argue that the direct and dynamic measurement of metabolite flux will facilitate the integration of environmental, genetic and biochemical factors with phenotypic information. Ultimately, this integration will lead to new diagnostic and therapeutic approaches that are focused on the manipulation of these pathways.
- Subjects
INBORN errors of metabolism; GENETIC disorders; METABOLIC disorders; HOMEOSTASIS; PHYSIOLOGICAL control systems; INBORN errors of metabolism diagnosis; CELLULAR signal transduction; DISEASE susceptibility; FORECASTING; GENETIC mutation; PHENOTYPES; THERAPEUTICS
- Publication
Nature Reviews Genetics, 2006, Vol 7, Issue 6, p449
- ISSN
1471-0056
- Publication type
journal article
- DOI
10.1038/nrg1880