title: Incidence of maple syrup urine disease in Portugal.
abstract: 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.
authors.affiliation: IPATIMUP - Institute of Pathology and Molecular Immunology, University of Porto, Portugal. mquental@ipatimup.pt
authors.forename: Sofia
authors.initials: S
authors.lastname: Quental
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Martins
authors.forename: Elisa Leão
authors.initials: EL
authors.lastname: Teles
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Rodrigues
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia
authors.forename: Filomena
authors.initials: F
authors.lastname: Eusébio
authors.forename: Ana
authors.initials: A
authors.lastname: Gaspar
authors.forename: Sílvia
authors.initials: S
authors.lastname: Sequeira
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Prata
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000453:epidemiology*; D015997:Neonatal Screening; D011174:Portugal / Q000453:epidemiology; D055815:Young Adult