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Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach. The study, published in JAMA Network Open, shows that untargeted metabolomics identifies many more disorders of greater variety as compared to traditional methods, including disorders for which there was not a clinically available biochemical test. The researchers hope that adoption of metabolomics to screen for inborn errors of metabolism will result in a more rapid, more efficient and less expensive diagnostic journey for individuals and families with rare metabolic disorders.

Baylor college of medicineUnited statesV reid suttonSarah elseaEmily hendersonBaylor danl duncan comprehensive cancer centerBaylor collegeDanl duncan comprehensive cancer centerBaylor geneticsInborn errorsMetabolism serviceTexas childrenபேலர் கல்லூரி ஆஃப் மருந்துஒன்றுபட்டது மாநிலங்களில்வ் ரீட் சுட்டன்எமிலி ஹென்டர்சன்