Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence each MPS type available for only few countries, and totality cases may be underestimated. To determine epidemiological profile in Brazilian region, we analyzed data collected between 1982 2019 national reference laboratory identified 1,652 patients. Using 1994 2018, (by 100,000 live births) was 1.57. II most common Brazil, its 0.48 (0.94 considering male births). Regarding number per frequent North Center-West (followed VI), also Southeast I); I were types South; VI Northeast II). differences observed relative frequencies across regions likely linked to founder effect, endogamy, consanguinity, but other factors present need further investigation.