Incidence of maple syrup urine disease in Portugal

http://hdl.handle.net/10400.18/169

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Authors

Vilarinho, Laura

Martins, Esmeralda

Teles, Elisa Leão

Rodrigues, Esmeralda

Eusébio, Filomena

Sequeira, Sílvia

Abstract(s)

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.

Keywords

Maple syrup urine disease Portugal Incidence Doenças Genéticas

URI

http://hdl.handle.net/10400.18/169

Citation

Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 22

Publisher

Elsevier

Collections

DGH - Artigos em revistas internacionais