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Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center 74
Mendoza-Ruvalcaba,Sandra del Carmen; Brambila-Tapia,Aniel Jessica Leticia; Juárez-Osuna,Jesús Alejandro; Silva-José,Thiago Donizete Da; García-Ortiz,José Elías.
Abstract 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...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mucopolysaccharidoses; Leukocyte enzymatic activity; Fluorometric assay; Mexico.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100106
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