Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

Abstract

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.

Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome

“…MPS II is the most frequent type of MPS in Brazil (Josahkian et al, 2021), the same occurring in some Asian countries such as Japan, South Korea, Taiwan, and China, as well as in a few European countries, as Switzerland and Estonia (Khan et al, 2017), and Israel (Schaap & Bach, 1980).…”

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

“…MPS III is the most common in Germany, Netherlands, and Emirates (Al-Jasmi et al, 2013). MPS II is more frequent in Brazil (Josahkian et al, 2021), China, and Japan (Chen et al, 2016;Khan et al, 2017) while Canada (Lowry et al, 1990) and Columbia (Moreno-Giranldo et al, 2020) reported MPS IV and Arab (Moammar et al, 2010) reported MPS VI as the rst condition.…”

Utility of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

“…MPS III is the most common in Germany, Netherlands 4 , and Emirates 36 . MPS II is more frequent in Brazil 37 , China, and Japan 38,39 while Canada 35 and Columbia 12 reported MPS IV and Arab 40 reported MPS VI as the rst condition.…”