Incidence of maple syrup urine disease in Portugal

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.

Palavras-chave

Maple syrup urine disease Portugal Incidence Doenças Genéticas

URI

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

Citação

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

Editora

Elsevier

Coleções

DGH - Artigos em revistas internacionais

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