Medicina - Palmira

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Importancia del pedigree en el diagnóstico neonatal de las enfermedades huérfanas: reporte de caso MPS VI
(Universidad Santiago de Cali, 2024) Cuero Castro, José Rodolfo; Ardila Millán, Luisa María; Ortiz González, Daniela; Maldonado Benítez, David Emilio (Director)
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a progressive, autosomal recessive lysosomal storage disease caused by variants in the gene encoding the arylsulfatase B enzyme, with a global prevalence of approximately 1 case per 25,000 live births. In Colombia, the incidence of MPS VI is estimated at $0.23:100,000$ MPS patients, with the Public Health Surveillance System (SIVIGILA) reporting only 9 cases of MPS VI in 2023. Since Colombia lacks neonatal screening policies for these diseases, and phenotypic commitment can be subtle in some newborns, this context underscores the critical importance of early detection through the evaluation of risk factors, the development of a family pedigree, and a thorough clinical history. This approach would enable the implementation of specific treatments and the application of precision medicine to reduce morbidity and mortality in the absence of mass screening programs.