Abstract
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.
Competing interests: None declared
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Communicated by: Jerry Vockley, M.D., Ph.D.
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Synopsis
Data on the birth prevalence of fatty acid β-oxidation disorders in Iberia is reported for the first time, highlighting the high birth prevalence of this group of metabolic disorders in this European region. From the comparative analysis of various populations with comparable data differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations.
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Hugo Rocha, Daisy Castiñeiras, Carmen Delgado, José Egea, Raquel Yahyaoui, Yolanda González, Manuel Conde, Inmaculada González, Inmaculada Rueda, Luis Rello, Laura Vilarinho and José Cocho declare that they have no conflict of interest.
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This article does not contain any studies with human or animal subjects performed by any of the authors.
Details of the Contributions of Individual Authors
Hugo Rocha: Conception, design and drafting of the article. Daisy Castiñeiras: Analysis and interpretation of data from Galicia. Carmen Delgado: Analysis and interpretation of data from Western Andalucia. José Egea: Analysis and interpretation of data from Murcia. Raquel Yahyaoui: Analysis and interpretation of data from Eastern Andalucia. Yolanda González: Analysis and interpretation of data from Aragón/La Rioja. Manuel Conde: Analysis and interpretation of data from Western Andalucia. Inmaculada González: Analysis and interpretation of data from Murcia. Inmaculada Rueda: Analysis and interpretation of data from Eastern Andalucia. Luis Rello: Analysis and interpretation of data from Aragón/La Rioja. Laura Vilarinho: Analysis and interpretation of data from Portugal and critical review of the article for important intellectual content. José Cocho: Conception, design and critical review of the article.
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Rocha, H. et al. (2014). Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports Volume 16. JIMD Reports, vol 16. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_324
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DOI: https://doi.org/10.1007/8904_2014_324
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