Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2144
Título: Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
Autor: Ventura, F.V.
Leandro, P.
Luz, A.
Rivera, I.A.
Silva, M.F.
Ramos, R.
Rocha, H.
Lopes, A.
Fonseca, H.
Gaspar, A.
Diogo, L.
Martins, E.
Leão-Teles, E.
Vilarinho, L.
Tavares de Almeida, I.
Palavras-chave: ACADM
MCADD
Inborn Errors of Metabolism
Mitochondrial Fatty Acid β-oxidation Disorders
Newborn Screening
Doenças Genéticas
Data: 6-Jul-2013
Editora: John Wiley & Sons
Citação: Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28
Resumo: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2144
ISSN: 0009-9163
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/cge.12227/full
Aparece nas colecções:DGH - Artigos em revistas internacionais

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