New metabolomic screening method detects multiple inborn errors of metabolism in urine


Credit: ©Mary Ann Liebert, Inc., publishers

New Rochelle, NY, November 3, 2016-Analysis of a single urine sample using a metabolomics-based screening approach can identify multiple different inborn errors of metabolism (IEMs), facilitating early disease detection and rapid initiation of treatment, as described in an article published in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Genetic Testing and Molecular Biomarkers website until November 30, 2016.

Adam Kennedy, Sarah Elsea, and coauthors from Metabolon, Inc. (Durham, NC) and Baylor College of Medicine (Houston, TX), present the automated IEM screening platform they have designed and implemented in the article entitled "Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism".

Biochemical signatures have been identified in urine for more than 30 IEMs, which have traditionally been detected in various different bodily fluids including blood and cerebrospinal fluid. This study demonstrates the potential to detect numerous IEMs in a single urine sample using one metabolomics-based assay performed on an automated screening platform.

"This is both transformative research and an economical and efficient way to provide precision medicine on a population-based scale," says Genetic Testing and Molecular Biomarkers Editor-in-Chief Garth D. Ehrlich, PhD, FAAAS, Center for Genomic Sciences and Center for Advanced Microbial Processing, Institute for Molecular Medicine and Infectious Disease, Drexel College of Medicine (Philadelphia, PA).


About the Journal

Genetic Testing and Molecular Biomarkers is an authoritative peer-reviewed journal published 12 times per year online with open access options and in print that reports on all aspects of genetic testing, including molecular and biochemical based tests and varied clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. Tables of content and a free sample issue may be viewed on the Genetic Testing and Molecular Biomarkers website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Human Gene Therapy and OMICS: A Journal of Integrative Biology. Its biotechnology trade magazine, GEN (Genetic Engineering & Biotechnology News), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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