- Inborn errors of metabolism occurs when there are defects in enzymes that help breakdown food.
- The food fails to get converted to energy in metabolic disorders.
- Biochemical signatures have been identified in urine for more than 30 inborn errors of metabolism (IEMs).
- The study states that numerous IEMs can be detected by using one metabolomics-based assay in a single urine sample.
Metabolomics is the scientific study of metabolites present within a cell or tissue.
‘Metabolomics based screening of a single urine sample facilitates early disease detection and rapid initiation of treatment.’
AdvertisementMetabolome, is collection of metabolites in a cell, tissue, organ or organism. These are the end products of cellular processes.
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy.
The disorders are usually caused by defects in specific enzymes that help break down or metabolize parts of food.
A food product that is not broken down into energy can build up in the body and cause a wide range of symptoms.
Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled.
There are many different types of inborn errors of metabolism like fructose intolerance, galactosemia, maple sugar urine disease (MSUD) and phenylketonuria (PKU).
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.
The current 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.
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.
The findings are described in an article published in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.
- Inborn errors of metabolism - (https:medlineplus.gov/ency/article/002438.htm/)
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