New screening approach improves the diagnosis of metabolic disorders in newborns

A team led by researchers at Baylor Medical College found that a screening method known as non-targeted metabolomics profiling has a diagnostic rate of about 7 inborn errors of metabolism, a group of rare genetic conditions, compared to traditional metabolic screening. An approach that we have found can be doubled.

Research published in JAMA network openShows that non-target metabolomics identifies even more Disability There is more variety compared to traditional methods, including disorders for which there were no clinically available biochemical tests.Researchers want to adopt and screen metabolomics Inborn errors of metabolism It’s a faster, more efficient, and cheaper diagnostic journey for individuals and families with rare metabolic disorders.

“Currently, newborn screening is performed on all babies born in the United States to check for serious but rare health conditions at birth. Screening includes blood, hearing, and heart tests. Included, “said the corresponding author, Dr. Sarah Elsie. Senior Director of Biochemical Genetics at Baylor and Baylor Genetics. “Newborn screening has generally improved over the last decade, but clinical screening for birth defects has not changed significantly over the last 40-50 years.”

Inborn errors of metabolism include conditions that disrupt the normal processes that the body uses to convert food into energy and can cause serious conditions. Early diagnosis can lead to early treatment, if possible. For example Newborn screening Look for signs of symptoms such as phenylketonuria. Phenylketonuria is the body’s inability to break down the amino acid phenylalanine, which results in its accumulation. Accumulation of phenylalanine can cause irreparable harm to the nervous system, but early intervention can help manage the condition.

Elsie, a member of the Dan L Duncan Comprehensive Cancer Center at Baylor University, said: And drug discovery center. “The current study compared standard approaches with non-targeted metabolomics for their effectiveness in identifying metabolic status.”

Researchers compared the results of applying the two approaches to 4,464 Clinical sample Received from 1,483 unrelated families. They found that the diagnostic rate for traditional standard analysis was about 1%. However, using non-targeted metabolomics analysis, researchers were able to confirm a positive rate of diagnosis of 7%.

“This is a significant increase in our ability to diagnose these conditions,” Elsie said. “We can now identify with one Blood sample More conditions than ever before. “

“Furthermore, by analyzing many metabolic compounds in a single blood sample, we don’t have to take more samples to do more testing to look for a particular condition. Includes taking a sample of cerebrospinal fluid. Blood sample. ” Human genetics At Baylor, he is the Medical Director of the Institute for Biochemical Genetics at Baylor Genetics and Director of Inborn Errors of Metabolism Services at Texas Children’s Hospital.

This screening approach offers the important benefit of reducing the time to diagnosis and initiation of treatment, if possible.

By using non-targeted metabolomics in combination with genetic screening, researchers and physicians can not only reliably confirm the diagnosis, but also rule out potential conditions.Novel, wider Sifting The approach identifies severe illnesses and mild illnesses that may not fit perfectly with the characteristics observed in more severe cases.

“We have found that people with mild illness are more common in our population than people with severe illness,” Elsea said. “Our approach has been very successful in identifying seizure disorders, movement disorders, and autism spectrum disorders. Our analysis opens our hearts to a much wider range of diseases and improves early diagnosis. Made it possible. ”