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