Quo vadis: the re-definition of “inborn metabolic diseases”

  title={Quo vadis: the re-definition of “inborn metabolic diseases”},
  author={E. Morava and S. Rahman and V. Peters and M. Baumgartner and M. Patterson and J. Zschocke},
  journal={Journal of Inherited Metabolic Disease},
  • E. Morava, S. Rahman, +3 authors J. Zschocke
  • Published 2015
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • How should we define or redefine inborn metabolic diseases (IMDs) in the era of genetic diagnostic revolution? Previously, it was relatively easy: IMDs were mostly inherited, and occasionally de novo, genetic disorders of the biosynthesis or breakdown of substances within specific pathways that were recognized by specific biochemical tests and sometimes treatable by metabolic intervention. Current challenges in the new era of emerging novel disorders are discussed and illustrated by examples of… CONTINUE READING
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