The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceara state (Northeast Brazil).

ABSTRACT: Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition,

SUBMITTER: Cardoso-Dos-Santos AC 

PROVIDER: S-EPMC11549260 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature