Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center
| Autor: | Sandra C. Mendoza-Ruvalcaba, José Elías García-Ortiz, Aniel Jessica Leticia Brambila-Tapia, Jesús Alejandro Juárez-Osuna, Thiago Donizete Da Silva-José |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0106 biological sciences
0301 basic medicine medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Incidence (epidemiology) Mucopolysaccharidosis nutritional and metabolic diseases Biochemical diagnosis QH426-470 Biology Mucopolysaccharidoses medicine.disease 01 natural sciences 03 medical and health sciences 030104 developmental biology Internal medicine Human and Medical Genetics Genetics medicine leukocyte enzymatic activity skin and connective tissue diseases Molecular Biology Mexico 010606 plant biology & botany fluorometric assay |
| Zdroj: | Genetics and Molecular Biology Genetics and Molecular Biology, Volume: 43, Issue: 1, Article number: e20180347, Published: 14 FEB 2020 Genetics and Molecular Biology, Vol 43, Iss 1 (2020) Genetics and Molecular Biology v.43 n.1 2020 Sociedade Brasileira de Genética (SBG) instacron:SBG |
| ISSN: | 1678-4685 1415-4757 |
| Popis: | 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: | OpenAIRE |
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