| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000459212 |
| ISSN: | 1415-4757 |
| Autors: | Sebastião, Fernanda Medeiros1 Michelin Tirelli, Kristiane1 Bender, Fernanda1 Lopes, Franciele Fátima1 Moraes, Inamara1 Kubaski, Francyne1 Giugliani, Roberto1 Burin, Maira1 |
| Institucions: | 1Hospital de Clinicas de Porto Alegre, Servico de Genetica Medica, Porto Alegre, Rio Grande do Sul. Brasil |
| Any: | 2022 |
| Volum: | 45 |
| Número: | 1 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico |
| Resumen en inglés | The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagnosis of patients with IEM during the first year of the pandemic in Brazil comparing two distinct periods: from March 1st, 2019 to February 29th, 2020 (TIME A) and from March 1st, 2020 to February 28th, 2021 (TIME B), by the analysis of the number of tests and diagnoses performed in a Reference Center in South of Brazil. In the comparison TIME A with TIME B, we observe a reduction in the total number of tests performed (46%) and in the number of diagnoses (34%). In both periods analyzed, mucopolysaccharidoses (all subtypes combined) was the most frequent LD suspected and/or confirmed. Our data indicates a large reduction in the number of tests requested for the investigation of IEM and consequently a large reduction in the number of diagnoses caused by the COVID-19 pandemic leading to a significant underdiagnosis of IEM |
| Disciplines | Biología, Medicina |
| Paraules clau: | Virus, Diagnóstico, COVID-19, Brasil, Lisosomas, Errores innatos del metabolismo |
| Keyword: | Virus, Diagnosis, COVID-19, Inborn metabolic errors, Lysosomes |
| Text complet: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
