Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

This article discusses the implementation of a newborn screening program for metachromatic leukodystrophy (MLD), a lysosomal storage disorder. The study conducted screening, diagnostic testing, and treatment decisions for newborn infants in Germany. The three-tiered screening algorithm involved analyzing sulfatide levels, measuring arylsulfatase A (ARSA) activity, and conducting genetic sequencing. The study found that early detection through newborn screening and presymptomatic treatment can improve clinical outcomes for children with MLD. The article emphasizes the feasibility and efficacy of implementing a high-throughput screening program for MLD. [Extracted from the article]