Quental, SofiaVilarinho, LauraMartins, EsmeraldaTeles, Elisa LeãoRodrigues, EsmeraldaDiogo, LuísaGarcia, PaulaEusébio, FilomenaGaspar, AnaSequeira, SílviaAmorim, AntónioPrata, Maria João2011-09-142011-09-142010-08Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 221096-7192doi:10.1016/j.ymgme.2010.04.007http://hdl.handle.net/10400.18/169Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 live newborns was estimated in Portugal, indicating that the disease is more frequent in this country than reported in most populations.engMaple syrup urine diseasePortugalIncidenceDoenças Genéticasjournal article