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Multiple inborn errors of metabolism detected using novel metabolomic urine screening technique


A metabolomics-based screening approach on a single urine sample has been used to identify multiple different inborn errors of metabolism (IEMs). This has the potential to facilitate early disease detection and treatment.

The research presenting an automated IEM screening platform, which has been designed and implemented, was recently published in Genetic Testing and Molecular Biomarkers.

The biochemical signatures of over 30 IEMs have been identified in urine by the researchers at Metabolon, Inc. (Durham, NC, US) and Baylor College of Medicine (Houston, TX, US). Conventionally, markers of IEMs have been detected in various different bodily fluids including blood and cerebrospinal fluid.

This study demonstrates the potential of using one metabolomics-based assay performed on an automated screening platform to detect numerous IEMs in a single urine sample.

“This is both transformative research and an economical and efficient way to provide precision medicine on a population-based scale,” commented the Editor in Chief of Genetic Testing and Molecular Biomarkers,  Garth D. Ehrlich (Philadelphia, PA).

Source: Kennedy DA, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LAD et al. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of MetabolismGenetic Testing and Molecular Biomarkers doi: 10.1089/gtmb.2015.0291 (2016) (Epub ahead of print);


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