title: Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.
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.
authors.affiliation: Newborn Screening, Metabolism and Genetics Unit, Genetics Department, National Institute of Health Ricardo Jorge, Porto, Portugal, hugo.rocha@insa.min-saude.pt.
authors.forename: Hugo
authors.initials: H
authors.lastname: Rocha
authors.forename: Daisy
authors.initials: D
authors.lastname: Castiñeiras
authors.forename: Carmen
authors.initials: C
authors.lastname: Delgado
authors.forename: José
authors.initials: J
authors.lastname: Egea
authors.forename: Raquel
authors.initials: R
authors.lastname: Yahyaoui
authors.forename: Yolanda
authors.initials: Y
authors.lastname: González
authors.forename: Manuel
authors.initials: M
authors.lastname: Conde
authors.forename: Inmaculada
authors.initials: I
authors.lastname: González
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Rueda
authors.forename: Luis
authors.initials: L
authors.lastname: Rello
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: José
authors.initials: J
authors.lastname: Cocho