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.
Quental
Sofia
S
IPATIMUP - Institute of Pathology and Molecular Immunology, University of Porto, Portugal. mquental@ipatimup.pt
Vilarinho
Laura
L
Martins
Esmeralda
E
Teles
Elisa Leão
EL
Rodrigues
Esmeralda
E
Diogo
Luísa
L
Garcia
Paula
P
Eusébio
Filomena
F
Gaspar
Ana
A
Sequeira
Sílvia
S
Amorim
António
A
Prata
Maria João
MJ
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