New screening methods improve the diagnosis of metabolic disorders in newborns

The study, published in the JAMA Network Open, shows that compared with traditional methods, non-targeted metabolomics can identify more types of diseases, including diseases for which there are no clinically available biochemical tests

Currently, every baby born in the United States undergoes a newborn screening to check for serious but rare health problems at birth

Inborn errors of metabolism include disrupting the body's normal process of converting food into energy and can lead to serious conditions

Elsie, a member of the Dan L.

The researchers compared the application results of 4,464 clinical samples from 1,483 non-relative families

Elsie said: "This is a substantial improvement in the ability to diagnose these diseases

"In addition, we analyze many metabolic compounds in a single blood sample, reducing the need to collect more samples for further testing to find specific conditions

If feasible, the key advantage of this screening method is that it reduces the time it takes to make a diagnosis and start treatment

Using non-targeted metabolomics combined with genetic screening allows researchers and doctors to not only confirm the diagnosis with high confidence, but also to rule out underlying conditions

Elsie said: "We found that in our population, people with mild illnesses are more common than people with severe illnesses

Other contributors include Liu Ning, Xiao Jing, Charul Gijavanekar, Kirk Pappan, Kevin Glinton, Brian Shayota, Adam Kennedy and Sun Written by Qin

This research was partially supported by the National Institutes of Health (National Institutes of Health) T32 GM007526 grant, the Takeda American Medical Genetics and Genomics Foundation Next Generation Medical Biochemical Subspecialty Scholarship, and the Urea Cycle Disease Alliance

Journal Reference :

1. Ning Liu, Jing Xiao, Charul Gijavanekar, Kirk L.