Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2991
Título: Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
Autor: Rocha, Hugo
Castiñeiras, Daisy
Delgado, Carmen
Egea, José
Yahyaoui, Raquel
González, Yolanda
Conde, Manuel
González, Inmaculada
Rueda, Inmaculada
Rello, Luis
Vilarinho, Laura
Cocho, José
Palavras-chave: Doenças Genéticas
Fatty Acid b-oxidation Disorders (FAOD)
Data: 2014
Editora: Springer
Citação: JIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11.
Resumo: 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.
Descrição: Disponível online em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221301/
Peer review: yes
URI: http://hdl.handle.net/10400.18/2991
DOI: 10.1007/8904_2014_324
ISSN: 2192-8304
Versão do Editor: http://link.springer.com/chapter/10.1007%2F8904_2014_324
Aparece nas colecções:DGH - Artigos em revistas internacionais

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