Quental S.,University of Porto |
Vilarinho L.,Genetics Medical Center |
Martins E.,Childrens Hospital Maria Pia |
Teles E.L.,Sao Joao Hospital |
And 8 more authors.
Molecular Genetics and Metabolism | Year: 2010
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. © 2010 Elsevier Inc.