ArticleGenetics and molecular biology2021
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Article in Genetics and molecular biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Natural History of Morquio A Syndrome.Journal of inherited metabolic disease · 2026Review
- Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.BMC pediatrics · 2026Review
- Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.Diseases (Basel, Switzerland) · 2025Article
- Recent advances in mucopolysaccharidosis IVA treatment.Orphanet journal of rare diseases · 2025Review
- Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.Diagnostics (Basel, Switzerland) · 2025Article
- Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.Journal of community genetics · 2025Article
- Analysis of genomic ancestry and characterization of a new variant in MPS type VII.Orphanet journal of rare diseases · 2025Article
- The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.Diagnostics (Basel, Switzerland) · 2025Article
- The diagnosis and management of mucopolysaccharidosis type II.Italian journal of pediatrics · 2024Review
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.Biomedicines · 2023Review
- Mucopolysaccharidoses and the blood-brain barrier.Fluids and barriers of the CNS · 2022Review
- Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy.International journal of molecular sciences · 2022Review
- Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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