Inborn errors of metabolism: The flux from Mendelian to complex diseases

Brendan Lanpher, Nicola Brunetti-Pierri, Brendan Lee

Research output: Contribution to journalReview articlepeer-review

72 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)449-460
Number of pages12
JournalNature Reviews Genetics
Issue number6
StatePublished - Jun 2006

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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