Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240 p = 0,001). RESULTADOS:įoram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos intervalo interquartil (IQR): 0,57-7). Os dados foram coletados por meio de uma revisão de prontuários.
Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Maple syrup urine disease MSUD Inborn errors of metabolism DiagnosisĬaracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country. In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. 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. Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. 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). RESULTS:Įighty-three patients from 75 families were enrolled in the study (median age, 3 years interquartile range, 0.57-7). Data were collected by means of a chart review. 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. To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 19. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilBrazilian MSUD Network, Porto Alegre, RS, Brazil About the authors Postgraduate Program in Pediatrics and Adolescent Health, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilMedical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilDepartment of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilInstituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil Carolina Fischinger Moura de Souza Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil José Simon Camelo Juniorīrazilian MSUD Network, Porto Alegre, RS, BrazilDepartment of Pediatrics, School of Medicine of Ribeirão Preto, Ribeirão Preto, SP, Brazil Mara Lúcia Santosīrazilian MSUD Network, Porto Alegre, RS, BrazilHospital Pequeno Príncipe, Curitiba, PR, Brazil Erlane Marques Ribeiroīrazilian MSUD Network, Porto Alegre, RS, BrazilHospital Infantil Albert Sabin, Fortaleza, CE, BrazilInstituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil Lavinia Schüler-Faccini Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilBrazilian MSUD Network, Porto Alegre, RS, Brazil Cristina Brinkmann Oliveira Netto