| Autor: |
Mendoza-Ruvalcaba SDC; Instituto Mexicano del Seguro Social, Centro de Investigación Biomédica de Occidente, Guadalajara, Jalisco, Mexico., Brambila-Tapia AJL; Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Departamento de Psicología Básica, Guadalajara, Jalisco, Mexico., Juárez-Osuna JA; Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, Mexico., Silva-José TDD; Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco, Mexico., García-Ortiz JE; Instituto Mexicano del Seguro Social, Centro de Investigación Biomédica de Occidente, Guadalajara, Jalisco, Mexico.; Instituto Mexicano del Seguro Social, Centro Médico Nacional de Occidente, UMAE Hospital Gineco-Obstetricia, Guadalajara, Jalisco, Mexico. |
| Jazyk: |
angličtina |
| Zdroj: |
Genetics and molecular biology [Genet Mol Biol] 2020 Feb 14; Vol. 43 (1), pp. e20180347. Date of Electronic Publication: 2020 Feb 14 (Print Publication: 2020). |
| DOI: |
10.1590/1678-4685-GMB-2018-0347 |
| Abstrakt: |
Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides. For the accurate diagnosis of the disease, the quantification of a specific enzymatic activity is needed. In the present study, we analyzed seven MPS over several periods of time ranging from 2 to 5 years in a reference center in Mexico. During this time, a total of 761 samples belonging to 505 individuals with suspected MPS were analyzed. A total of 198 (26.01%) positive results were found. Among these, MPS IVA accounted for the highest frequency of positive results (49.10%), followed by MPS III (17.69%, IIIA: 11.80% and IIIB: 5.89%). Adjusting for the number of births per year, the estimated incidence per 100,000 births for MPS analyzed were as follows: MPS I: 0.19, MPS II: 0.15, MPS IIIA: 0.26, MPS IIIB: 0.13, MPS IVA: 1.10, MPS VI: 0.17 and MPS VII: 0.23, and the combined estimated incidence of MPS was 2.23 per 100,000 births; however, this incidence seems to be highly underestimated when compared with the results of newborn screenings. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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