Selective screening of 18,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

• Autor(a) principal: C. Coelho, Janice
• Data de Publicação: 2022
• Outros Autores: G. Burin, Maira, Wajner, Moacir, R. Vargas, Carmem, T. S. Souza, Fernanda, Giugliani, Roberto
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Clinical and Biomedical Research
• Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/126026
• topic: Erros inatos do metabolismo; investigação seletiva; genética bioquímica; Inborn errors of metabolism; selective screening; biochemical genetics

OBJECTIVE: The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set up in Porto Alegre, Brazil, and became a national reference centre for the diagnosis of these disorders. The aim of this study is to report the most frequent IEM diagnosed in our country.MATERIAL AND METHODS: Eighteen thousand patients with signs and symptoms suggestive of IEM were investigated in our laboratory from 1982 to 2000 using specific protocols which included tests for the detection of glucosaminoglycans (GAGS), amino acids, sugars, oligosaccharides, sialyloligosaccharides, organic acids, as well as various metabolites.RESULTS: The biochemical investigation was completed in 17,822 patients and an IEM was detected in 1,460 cases (8.5%). Groups of IEM of higher incidence in our sample were lysosomal storage disorders (59.4%) and aminoacidopathies (18.8%). The disorders most frequently diagnosed were Gaucher disease, GM1 gangliosidosis, mucopolysaccharidosis type I, classical phenylketonuria, mucopolysaccharidosis type VI and mucopolysaccharidosis type II.CONCLUSIONS: This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of IEM in developing countries such as Brazil.