Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Publications
· 5 May 2025
Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

This paper summarizes the expansion of newborn screening for inherited metabolic diseases, highlighting that its benefits vary across conditions. It emphasizes the need for a better understanding of the full disease spectrum and long-term outcomes, and advocates for involving adult metabolic specialists to refine screening programs so they target patients who truly benefit while minimizing unnecessary burden.