A research initiative undertaken by a team at Baylor College of Medicine has led to a breakthrough finding to detect several inborn errors. Termed untargeted metabolomics, the screening method can improve diagnostic rate by about seven times for inborn anomaly in metabolism, group of rare genetic disorders in comparison to traditional screening methods.
The study is published in JAMA Network Open. The study demonstrates that untargeted metabolomics detects several disorders, not detected by traditional methods, including the ones which did not have clinical biochemical test. This pins hope that use of metabolomics to screen for inborn metabolism anomalies will result in a more rapid, less expensive, and more efficient diagnostic journey for families and individuals with rate metabolic diseases.
Currently, for infants born in the U.S., newborn screening is carried out to examine serious but rare congenital health conditions. The screening includes hearing, blood, and heart tests. While in the last 10 years, newborn screening has improved, clinical screening for inborn metabolism anomalies has not changed sizably in the last 40 to 50 years.
In fact, anomalies in metabolism at birth that disrupt normal processes of the body to transform food into energy can lead to serious conditions. Therefore, early diagnosis, if possible can lead to early treatment. For example, newborn screening involves examining signs of phenylketonuria, wherein the body loses its ability to break down amino acid phenylalanine. In the event of build up of phenylalanine, it can lead to irreparable harm of the nervous system, however, early intervention may prevent the condition from deteriorating.
For a solution to this, the research team developed untargeted metabolomics profiling for a broader spectrum of metabolic compounds in the blood.