Retrospective study of the medium‐chain acyl‐CoA dehydrogenase deficiency in Portugal. (28th July 2013)

• Record Type: Journal Article
• Authors: Ventura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.B.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.; Leão‐Teles, E.; Vilarinho, L.; Tavares de Almeida, I.
• Is Part Of: Clinical genetics. Volume 85:Number 6(2014:Jun.)
• Page Start: 555
• Page End: 561
• Publication Date: 2013-07-28
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12227
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12227-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12227-para-0001">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&gt;G (p.Lys329Glu) mutation in the <italic>ACADM</italic> gene (G985 allele). Herein, we present the first report on the molecular and biochemical <italic>spectrum</italic> 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&gt;G (p.Tyr73Cys), c.503A&gt;T (p.Asp168Val) and c.1205G&gt;T (p.Gly402Val)—were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in <italic>linkage disequilibrium</italic> with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.</p> </abstract>