Newborn screening for rare disease improves outcomes

The implementation of maple syrup urine disease (MSUD) newborn screening (NBS) is a crucial advancement in the management of this rare disease, according to a study, which found that by enabling early detection, a NBS screening program significantly increased the likelihood of survival for affected infants.

The study, which utilized tandem mass spectrometry-based NBS, successfully identified 6 MSUD patients from a pool of 1.3 million newborns in Shanghai. By measuring various indicators such as total leucine, leucine/phenylalanine ratio, and leucine/alanine ratio, the NBS method achieved accuracy with an area under the curve (AUC) of 1.000 for all indicators.

The study examined a total of 47 MSUD patients from multiple centers, including 14 patients identified through NBS and 33 patients diagnosed through clinical means. The patients were further subclassified into classic, intermediate, and intermittent subtypes. Patients with a classic subtype identified through NBS exhibited a significantly higher survival rate (62.5%) compared to those diagnosed clinically (5.2%).

This outcome underscores the importance of early detection and prompt intervention facilitated by NBS.

Reference
Chen T, Lu D, Xu F, et al. Newborn screening of maple syrup urine disease and the effect of early diagnosis. Clin Chim Acta. 2023;117483. doi: 10.1016/j.cca.2023.117483. Epub ahead of print. PMID: 37421976.