Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management.

This article presents European expert consensus recommendations for the management of patients identified through newborn screening for metachromatic leukodystrophy (MLD), a rare neurodegenerative lysosomal disorder. Because treatments such as hematopoietic stem cell transplantation and gene therapy are effective mainly at a pre-symptomatic stage, early detection is critical. Using a Delphi methodology, the authors define guidance on diagnostic confirmation, monitoring, timing of treatment, and long-term follow-up. The study emphasizes that newborn screening must be coupled with rapid, structured clinical decision-making to optimize patient outcomes.