TY - JOUR
T1 - Inborn errors of metabolism
T2 - The flux from Mendelian to complex diseases
AU - Lanpher, Brendan
AU - Brunetti-Pierri, Nicola
AU - Lee, Brendan
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
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U2 - 10.1038/nrg1880
DO - 10.1038/nrg1880
M3 - Review article
C2 - 16708072
AN - SCOPUS:33646893457
SN - 1471-0056
VL - 7
SP - 449
EP - 460
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 6
ER -