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.
Highlights
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of enzymes involved in the catabolism of glycosaminoglycans (GAGs)
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
When considering the number of cases diagnosed from each Brazilian region, we found that MPS II was the most frequent in the North, Center-West, and Southeast regions; MPS I and MPS II were tied as the most common types in the South region; and MPS VI was the most frequent in the Northeast region
Summary
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of enzymes involved in the catabolism of glycosaminoglycans (GAGs). These conditions are multisystemic, progressive, and have variable clinical features (Neufeld and Muenzer, 2014), among the different types and among patients with the same type of MPS. Studies of the specific enzymes involved in different steps of the GAG degradation pathway and the identification of which genes cause the disease allowed the classification of MPS in seven clinical types, which correspond to 11 enzyme. 1000, prédio 22, Camobi, 97105-900, Santa Maria, RS, deficiencies, currently recognized as MPS I, II, III (A, B, C, and D subtypes), IV (A and B subtypes), VI, VII, and IX
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