title: Assessment of a pioneer metabolic information service in Brazil.
abstract: The Information Service on Inborn Errors of Metabolism (SIEM), a pioneer toll-free service in both Brazil and South America, is based in Porto Alegre, Southern Brazil. SIEM has been operating since October 2001 providing support to health care professionals involved in the diagnosis and management of suspected metabolic diseases. We analyzed the demographic and clinical characteristics of the 376 consults received and followed in the first two and half years of SIEM. Our results show that the suspicion of a metabolic disease was most often associated with neurological symptoms. Among the consults, 24.4% were eventually confirmed as inborn errors of metabolism (IEM), with organic acidurias and amino acid disorders being the two most frequent diagnostic groups. Our conclusion shows this kind of service to provide helpful support to the diagnosis and acute management of IEM, especially to health professionals working in developing countries who are often far from reference centers.
authors.affiliation: Information Service on Inborn Errors of Metabolism (SIEM), Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. silviabrustolin@ig.com.br
authors.forename: Silvia
authors.initials: S
authors.lastname: Brustolin
authors.forename: Carolina
authors.initials: C
authors.lastname: Souza
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Puga
authors.forename: Lilia
authors.initials: L
authors.lastname: Refosco
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pires
authors.forename: Rossana
authors.initials: R
authors.lastname: Peres
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D001938:Brazil; D003430:Cross-Sectional Studies; D006801:Humans; D007255:Information Services / Q000592:standards*; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis*; D011785:Quality Assurance, Health Care