Incidence of maple syrup urine disease in Portugal

• Type: Article in International Scientific Journal
• Date: 2010

Authors

Sofia Quental (Author) Other; Laura Vilarinho (Author) Other; Esmeralda Martins (Author) Other; Elisa Leao Teles (Author) Other; Esmeralda Rodrigues (Author) Other; Luisa Diogo (Author) Other; Paula Garcia (Author) Other; Filomena Eusebio (Author) Other; Ana Gaspar (Author) Other; Silvia Sequeira (Author) Other; Antonio Amorim (Author) FCUP; Maria Joao Prata (Author) FCUP

Journal

Title: Molecular Genetics and Metabolism

Vol. 100

Pages: 385-387

ISSN: 1096-7192

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 15 Citations

Scopus - 18 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-003-4H0

DOI: 10.1016/j.ymgme.2010.04.007

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3