Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá

Ana Milena Gómez, Reggie García-Robles, Fernando Suárez-Obando, .

Keywords: mucopolysaccharidoses/epidemiology, metabolism, inborn errors, lysosomal storage diseases, cluster analysis.

Abstract

Introduction. Mucopolysaccharidoses are a group of infrequent disorders caused by the lysosomal deposit of glycosaminoglycans. Its incidence is quite variable among the countries where it has been documented. In Brazil, disorder frequencies have been reported, but in Colombia information on themis scarce.

Objectives. The frequency and spatial aggregations of the mucopolysaccharidoses were estimated by a retrospective study in two central Colombian provinces.

Materials and methods. The records of patients and live newborns between 1998-2007 were reviewed from several reference institutions for genetic diseases. From these records, the frequencies for each mucopolysaccharidosis were estimated. The spatial aggregation of the cases was analyzed using the SaTScan software.

Results. The combined frequency for all the mucopolysaccharidoses was 1.98 cases per 100,000 livenewborns. MPS IV had the highest frequency with 0.68 cases per 100,000 live newborns and MPS III showed a lower frequency of 0.17/100,000. Three spatial aggregation areas were indicated for MPS I,MPS III and MPS IV.

Conclusion. The combined frequency for all the mucopolysaccharidoses has been reported, with type IV the most frequent and the type VII in second place. The data herein constitute a record subset and, in spite of the difficulties inherent to the data retrieval in Colombia, they are a valid estimate of the frequencies of these diseases in central Colombia.

 

doi: http://dx.doi.org/10.7705/biomedica.v32i4.574

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  • Ana Milena Gómez Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia
  • Reggie García-Robles Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia Instituto de Nutrición, Genética y Metabolismo, Facultad de Medicina, Universidad El Bosque, Bogotá, D.C., Colombia
  • Fernando Suárez-Obando Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia

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How to Cite
1.
Gómez AM, García-Robles R, Suárez-Obando F. Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá. Biomed. [Internet]. 2012 Dec. 1 [cited 2025 Jun. 2];32(4):602-9. Available from: https://revistabiomedicaorg.biteca.online/index.php/biomedica/article/view/574

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Published
2012-12-01
Section
Original articles

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