Phenylketonuria in Brazil: evolution and cases

Detalhes bibliográficos
Autor(a) principal: Bussolotto MONTEIRO, Lenice Teresinha
Data de Publicação: 2023
Outros Autores: Bileski CÂNDIDO, Lys Mary
Tipo de documento: Artigo
Idioma: por
Título da fonte: Revista de Nutrição
Texto Completo: https://periodicos.puc-campinas.edu.br/nutricao/article/view/9773
Resumo: The objectives of this work were to gather relevant information on phenylketonuria, highlighting the cause, symptoms, dietary treatment, national and international prevalence and to identify the situation of thismetabolic disorder in Brazil. Data were obtained from the National Ministry of Health and phenylketonuriatreatment units in Brazil. In this study, 1225 people who received control and assistance for the disease wereincluded. One of the main problems detected was that in most of Brazil, phenylketonuria patients have toleave their home state seeking more qualified treatment centers. In the Northern and Northeastern Regions, little information is available. The results obtained lead to the conclusion that neither newborn screening, nor phenylketonuria treatment centers cover all of the Brazilian cases. Advances in organizing data and actions regarding phenylketonuria have been taking place. Specific foods are restrict and costly. New options are being researched, nevertheless, there is much to be done, mainly on food research and production.
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spelling Phenylketonuria in Brazil: evolution and casesFenilcetonúria no Brasil: evolução e casosmetabolism, inborn errorsPhenylketonurianeonatal screeningerros inatos do metabolismofenilcetonúriatriagem neonatalThe objectives of this work were to gather relevant information on phenylketonuria, highlighting the cause, symptoms, dietary treatment, national and international prevalence and to identify the situation of thismetabolic disorder in Brazil. Data were obtained from the National Ministry of Health and phenylketonuriatreatment units in Brazil. In this study, 1225 people who received control and assistance for the disease wereincluded. One of the main problems detected was that in most of Brazil, phenylketonuria patients have toleave their home state seeking more qualified treatment centers. In the Northern and Northeastern Regions, little information is available. The results obtained lead to the conclusion that neither newborn screening, nor phenylketonuria treatment centers cover all of the Brazilian cases. Advances in organizing data and actions regarding phenylketonuria have been taking place. Specific foods are restrict and costly. New options are being researched, nevertheless, there is much to be done, mainly on food research and production.Os objetivos deste trabalho foram: agrupar informações relevantes à fenilcetonúria, destacando causa, sintomas, tratamento dietético, prevalência nacional e internacional; e identificar a situação do Brasil quanto a essa disfunção metabólica. Foi realizado um levantamento de dados junto ao Ministério da Saúde e aos várioscentros de tratamento para fenilcetonúricos no Brasil. Neste estudo foram localizados 1.225 casos de portadores da doença, que recebiam controle e assistência. Um dos principais problemas detectados foi que, na maioria das regiões brasileiras, portadores de fenilcetonúria precisam deslocar-se de seus estados, procurando centros mais capacitados para o tratamento. Nas regiões Norte e Nordeste são poucas as informações disponíveis. Com os resultados obtidos conclui-se que, nem a triagem neonatal, nem os centros de tratamento para fenilcetonúria cobrem todos os casos brasileiros. O Brasil está avançando na organização de dados e ações relativas à fenilcetonúria. Os alimentos específicos são restritos e de alto custo. Novas opções estão sendo pesquisadas, porém, há muito para ser feito, principalmente em pesquisa e produção de alimentos.Núcleo de Editoração – PUC-Campinas2023-09-19info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.puc-campinas.edu.br/nutricao/article/view/9773Brazilian Journal of Nutrition; Vol. 19 No. 3 (2006): Revista de NutriçãoRevista de Nutrição; Vol. 19 Núm. 3 (2006): Revista de NutriçãoRevista de Nutrição; v. 19 n. 3 (2006): Revista de Nutrição1678-9865reponame:Revista de Nutriçãoinstname:Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)instacron:PUC_CAMPporhttps://periodicos.puc-campinas.edu.br/nutricao/article/view/9773/7113Copyright (c) 2023 Lenice Teresinha Bussolotto MONTEIRO, Lys Mary Bileski CÂNDIDOhttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccess Bussolotto MONTEIRO, Lenice TeresinhaBileski CÂNDIDO, Lys Mary 2023-09-19T14:46:29Zoai:ojs.periodicos.puc-campinas.edu.br:article/9773Revistahttp://www.scielo.br/rnPRIhttps://periodicos.puc-campinas.edu.br/nutricao/oai||sbi.submissionrn@puc-campinas.edu.br1678-98651415-5273opendoar:2023-09-19T14:46:29Revista de Nutrição - Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)false
dc.title.none.fl_str_mv Phenylketonuria in Brazil: evolution and cases
Fenilcetonúria no Brasil: evolução e casos
title Phenylketonuria in Brazil: evolution and cases
spellingShingle Phenylketonuria in Brazil: evolution and cases
Bussolotto MONTEIRO, Lenice Teresinha
metabolism, inborn errors
Phenylketonuria
neonatal screening
erros inatos do metabolismo
fenilcetonúria
triagem neonatal
title_short Phenylketonuria in Brazil: evolution and cases
title_full Phenylketonuria in Brazil: evolution and cases
title_fullStr Phenylketonuria in Brazil: evolution and cases
title_full_unstemmed Phenylketonuria in Brazil: evolution and cases
title_sort Phenylketonuria in Brazil: evolution and cases
author Bussolotto MONTEIRO, Lenice Teresinha
author_facet Bussolotto MONTEIRO, Lenice Teresinha
Bileski CÂNDIDO, Lys Mary
author_role author
author2 Bileski CÂNDIDO, Lys Mary
author2_role author
dc.contributor.author.fl_str_mv Bussolotto MONTEIRO, Lenice Teresinha
Bileski CÂNDIDO, Lys Mary
dc.subject.por.fl_str_mv metabolism, inborn errors
Phenylketonuria
neonatal screening
erros inatos do metabolismo
fenilcetonúria
triagem neonatal
topic metabolism, inborn errors
Phenylketonuria
neonatal screening
erros inatos do metabolismo
fenilcetonúria
triagem neonatal
description The objectives of this work were to gather relevant information on phenylketonuria, highlighting the cause, symptoms, dietary treatment, national and international prevalence and to identify the situation of thismetabolic disorder in Brazil. Data were obtained from the National Ministry of Health and phenylketonuriatreatment units in Brazil. In this study, 1225 people who received control and assistance for the disease wereincluded. One of the main problems detected was that in most of Brazil, phenylketonuria patients have toleave their home state seeking more qualified treatment centers. In the Northern and Northeastern Regions, little information is available. The results obtained lead to the conclusion that neither newborn screening, nor phenylketonuria treatment centers cover all of the Brazilian cases. Advances in organizing data and actions regarding phenylketonuria have been taking place. Specific foods are restrict and costly. New options are being researched, nevertheless, there is much to be done, mainly on food research and production.
publishDate 2023
dc.date.none.fl_str_mv 2023-09-19
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://periodicos.puc-campinas.edu.br/nutricao/article/view/9773
url https://periodicos.puc-campinas.edu.br/nutricao/article/view/9773
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://periodicos.puc-campinas.edu.br/nutricao/article/view/9773/7113
dc.rights.driver.fl_str_mv Copyright (c) 2023 Lenice Teresinha Bussolotto MONTEIRO, Lys Mary Bileski CÂNDIDO
https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2023 Lenice Teresinha Bussolotto MONTEIRO, Lys Mary Bileski CÂNDIDO
https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Núcleo de Editoração – PUC-Campinas
publisher.none.fl_str_mv Núcleo de Editoração – PUC-Campinas
dc.source.none.fl_str_mv Brazilian Journal of Nutrition; Vol. 19 No. 3 (2006): Revista de Nutrição
Revista de Nutrição; Vol. 19 Núm. 3 (2006): Revista de Nutrição
Revista de Nutrição; v. 19 n. 3 (2006): Revista de Nutrição
1678-9865
reponame:Revista de Nutrição
instname:Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
instacron:PUC_CAMP
instname_str Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
instacron_str PUC_CAMP
institution PUC_CAMP
reponame_str Revista de Nutrição
collection Revista de Nutrição
repository.name.fl_str_mv Revista de Nutrição - Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
repository.mail.fl_str_mv ||sbi.submissionrn@puc-campinas.edu.br
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