Metabolomics for IEMs

Posted by & filed under Part 03: GENERAL THEMES.

Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19.
Metabolomics identifies perturbations in human disorders of propionate metabolism.
Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G.
In this publications, the authors use mass-based metabolomics to identify compounds which differ from normal individuals in the plasma of patients with methylmalonic aciduria and propionic aciduria.
Not surprinsingly, propionylcarnitine was the best marker for the disease. New compounds such as gamma-butyrobetaine (possibly related to carnitine supplementation) and other unidentified compounds were detected.

This demonstrates the potential usefulness of metabolomics in inborn errors of metabolism, to identify new markers of the disease (e.g. to follow treatment). Eventually, if the process is optimized to allow rapid screening of samples, it might become possible to identify new IEMs using such metabolomic approaches.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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