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COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

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 affe...

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Autores principales: Sebastião, Fernanda Medeiros, Michelin-Tirelli, Kristiane, Bender, Fernanda, Lopes, Franciele Fátima, Moraes, Inamara, Kubaski, Francyne, Giugliani, Roberto, Burin, Maira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691104/
https://www.ncbi.nlm.nih.gov/pubmed/34927665
http://dx.doi.org/10.1590/1678-4685-GMB-2021-0253
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author Sebastião, Fernanda Medeiros
Michelin-Tirelli, Kristiane
Bender, Fernanda
Lopes, Franciele Fátima
Moraes, Inamara
Kubaski, Francyne
Giugliani, Roberto
Burin, Maira
author_facet Sebastião, Fernanda Medeiros
Michelin-Tirelli, Kristiane
Bender, Fernanda
Lopes, Franciele Fátima
Moraes, Inamara
Kubaski, Francyne
Giugliani, Roberto
Burin, Maira
author_sort Sebastião, Fernanda Medeiros
collection PubMed
description 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 1(st), 2019 to February 29(th), 2020 (TIME A) and from March 1(st), 2020 to February 28(th), 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.
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spelling pubmed-86911042021-12-29 COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil Sebastião, Fernanda Medeiros Michelin-Tirelli, Kristiane Bender, Fernanda Lopes, Franciele Fátima Moraes, Inamara Kubaski, Francyne Giugliani, Roberto Burin, Maira Genet Mol Biol Human and Medical Genetics 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 1(st), 2019 to February 29(th), 2020 (TIME A) and from March 1(st), 2020 to February 28(th), 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. Sociedade Brasileira de Genética 2021-12-17 /pmc/articles/PMC8691104/ /pubmed/34927665 http://dx.doi.org/10.1590/1678-4685-GMB-2021-0253 Text en https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Human and Medical Genetics
Sebastião, Fernanda Medeiros
Michelin-Tirelli, Kristiane
Bender, Fernanda
Lopes, Franciele Fátima
Moraes, Inamara
Kubaski, Francyne
Giugliani, Roberto
Burin, Maira
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title_full COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title_fullStr COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title_full_unstemmed COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title_short COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
title_sort covid-19 impact on the diagnosis of inborn errors of metabolism: data from a reference center in brazil
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691104/
https://www.ncbi.nlm.nih.gov/pubmed/34927665
http://dx.doi.org/10.1590/1678-4685-GMB-2021-0253
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