Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

Detalhes bibliográficos
Autor(a) principal: Rocha, Hugo
Data de Publicação: 2014
Outros Autores: Castiñeiras, Daisy, Delgado, Carmen, Egea, José, Yahyaoui, Raquel, González, Yolanda, Conde, Manuel, González, Inmaculada, Rueda, Inmaculada, Rello, Luis, Vilarinho, Laura, Cocho, José
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/2991
Resumo: Disponível online em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221301/
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spelling Birth Prevalence of Fatty Acid β-Oxidation Disorders in IberiaDoenças GenéticasFatty Acid b-oxidation Disorders (FAOD)Disponível online em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221301/Mitochondrial fatty acid β-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.SpringerRepositório Científico do Instituto Nacional de SaúdeRocha, HugoCastiñeiras, DaisyDelgado, CarmenEgea, JoséYahyaoui, RaquelGonzález, YolandaConde, ManuelGonzález, InmaculadaRueda, InmaculadaRello, LuisVilarinho, LauraCocho, José2015-02-27T17:30:28Z20142014-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2991engJIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11.2192-830410.1007/8904_2014_324info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:33Zoai:repositorio.insa.pt:10400.18/2991Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:55.592542Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
title Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
spellingShingle Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
Rocha, Hugo
Doenças Genéticas
Fatty Acid b-oxidation Disorders (FAOD)
title_short Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
title_full Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
title_fullStr Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
title_full_unstemmed Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
title_sort Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
author Rocha, Hugo
author_facet Rocha, Hugo
Castiñeiras, Daisy
Delgado, Carmen
Egea, José
Yahyaoui, Raquel
González, Yolanda
Conde, Manuel
González, Inmaculada
Rueda, Inmaculada
Rello, Luis
Vilarinho, Laura
Cocho, José
author_role author
author2 Castiñeiras, Daisy
Delgado, Carmen
Egea, José
Yahyaoui, Raquel
González, Yolanda
Conde, Manuel
González, Inmaculada
Rueda, Inmaculada
Rello, Luis
Vilarinho, Laura
Cocho, José
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Rocha, Hugo
Castiñeiras, Daisy
Delgado, Carmen
Egea, José
Yahyaoui, Raquel
González, Yolanda
Conde, Manuel
González, Inmaculada
Rueda, Inmaculada
Rello, Luis
Vilarinho, Laura
Cocho, José
dc.subject.por.fl_str_mv Doenças Genéticas
Fatty Acid b-oxidation Disorders (FAOD)
topic Doenças Genéticas
Fatty Acid b-oxidation Disorders (FAOD)
description Disponível online em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221301/
publishDate 2014
dc.date.none.fl_str_mv 2014
2014-01-01T00:00:00Z
2015-02-27T17:30:28Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/2991
url http://hdl.handle.net/10400.18/2991
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv JIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11.
2192-8304
10.1007/8904_2014_324
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dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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