Bulletin of Semashko National Research Institute of Public HealthBulletin of Semashko National Research Institute of Public Health2415-84102415-8429FSSBI «N.A. Semashko National Research Institute of Public Health»319710.69541/NRIPH.2026.02.010Научная статьяReview of Approaches to Screening for Niemann-Pick Disease Type A/B, Pompe Disease and Mucopolysaccharidosis Type IVoroninSergey Vladimirovichvoroninsvvlad@mail.ruOmelyanovskiyVitaly Vladimirovichvvo@rosmedex.ruMukhortovaPolina Alekseevnamuhortova@rosmedex.ruSlabikovaAleksandra Alekseevnaslabikova@rosmedex.ruResearch Centre for Medical Genetics, 115478, Moscow, Russian FederationCenter for Healthcare Quality Assessment and Control, 109028, Moscow, Russian FederationRussian Medical Academy of Continuous Professional Education, 125993, Moscow, Russian Federation260620262546327062026Copyright © 2026,2026The clinical significance of studying lysosomal storage diseases (LSDs) has substantially increased with advances in diagnostic methodologies, including newborn screening programs, and the emergence of novel therapeutic options. Given the severity and considerable clinical heterogeneity of LSDs, early diagnosis at the presymptomatic stage is of paramount importance, enabling timely initiation of effective pathogenetic therapy and improving disease prognosis. Global experience demonstrates progressive implementation of newborn screening programs for the most common LSDs, including Pompe disease (PD), mucopolysaccharidosis type I (MPS I), and Niemann-Pick disease types A/B (NP A/B), underscoring their clinical and social significance. The diversity of approaches in population-based newborn screening programs provides an opportunity to adapt international experience in LSD newborn screening to domestic healthcare systems. 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