title: Maple syrup urine disease in Brazil: a panorama of the last two decades.
abstract: OBJECTIVE
  To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011.
  
  
  METHODS
  In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review.
  
  
  RESULTS
  Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p=0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay.
  
  
  CONCLUSIONS
  In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
authors.affiliation: Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: Silvani
authors.initials: S
authors.lastname: Herber
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil. Electronic address: ischwartz@hcpa.ufrgs.br.
authors.forename: Ida Vanessa D
authors.initials: IV
authors.lastname: Schwartz
authors.affiliation: Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.
authors.forename: Tatiéle
authors.initials: T
authors.lastname: Nalin
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Cristina Brinkmann
authors.initials: CB
authors.lastname: Oliveira Netto
authors.affiliation: Brazilian MSUD Network, Porto Alegre, RS, Brazil; Department of Pediatrics, School of Medicine of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
authors.forename: José Simon
authors.initials: JS
authors.lastname: Camelo Junior
authors.affiliation: Brazilian MSUD Network, Porto Alegre, RS, Brazil; Hospital Pequeno Príncipe, Curitiba, PR, Brazil.
authors.forename: Mara Lúcia
authors.initials: ML
authors.lastname: Santos
authors.affiliation: Brazilian MSUD Network, Porto Alegre, RS, Brazil; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil.
authors.forename: Erlane Marques
authors.initials: EM
authors.lastname: Ribeiro
authors.affiliation: Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Brazilian MSUD Network, Porto Alegre, RS, Brazil.
authors.forename: Carolina Fischinger Moura de
authors.initials: CF
authors.lastname: Souza
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis / Q000706:statistics & numerical data*; D002658:Developmental Disabilities / Q000209:etiology; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007930:Leucine / Q000097:blood; D008137:Longitudinal Studies; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015997:Neonatal Screening; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D007930:Leucine
keywords: DXB; Diagnosis; Diagnóstico; Doença da urina de xarope de bordo; Erros inatos do metabolismo; Inborn errors of metabolism; MSUD; Maple syrup urine disease