Nationwide Newborn Screening for Mucopolysaccharidoses in Taiwan: Impact, Early Diagnosis, and Clinical Advances over the Past Decade.

Enzymatic screening by LC-MS/MS on dried blood spots, confirmation by urinary GAG analysis and NGS genotyping

Taiwan's nationwide NBS program for MPS I, II, IVA, and VI using LC-MS/MS on dried blood spots screened 838,585 infants over a decade. Among 437 referred newborns, 31 were diagnosed — all asymptomatic at diagnosis. The program reduced average age at diagnosis from 4.3 years to 0.2 years, enabling timely initiation of enzyme replacement therapy and hematopoietic stem cell transplantation. Population-specific MPS variants from the Taiwanese cohort were characterized, improving diagnostic interpretation.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Reducing MPS diagnosis age from 4.3 to 0.2 years fundamentally transforms the prognostic outlook for these lysosomal disorders. This large-scale program (838k infants, 10 years) demonstrates the feasibility and efficacy of nationwide NBS for MPS and provides robust prevalence data relevant to other Asian regions. The population-specific variant catalog is a valuable resource for diagnostic laboratories.

Clinical impact : 3/3 · Evidence strength : 2/3 · Novelty : 1/2 · Sample size : 1/1 · Journal quality : 1/1 → Total : 8/10