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Incidence of maple syrup urine disease in Portugal

2010; Elsevier BV; Volume: 100; Issue: 4 Linguagem: Inglês

10.1016/j.ymgme.2010.04.007

1096-7206

Sofia Quental, Laura Vilarinho, Esmeralda Martins, Elisa Leão Teles, Esmeralda Rodrigues, Luísa Diogo, P. de Diego Garciá, Filomena Eusébio, Ana Gaspar, Sílvia Sequeira, António Amorim, Maria João Prata,

Neonatal Health and Biochemistry

Maple 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.