Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. 3 3 Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. and in some Mennonite and Pennsylvania Dutch communities in the United States, it may be as high as 1 in 200 live births. Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline. data retrieved from newborn screening suggest this rate can be higher in Germany, for instance, the incidence is estimated at 1:133,000 NB, 2 2 Fingerhut R. The metabolic and molecular basis of inherited disease. In: Scriver C, Beaudet A, Sly W, Valle D, editors. Disorders of branched-chain amino acid and keto acid metabolism. Although the incidence of MSUD worldwide is usually estimated as being 1:185,000 newborns (NB), 1 1 Chuang D, Shih V. Leucine and its keto analog 2-oxoisocaproic acid are particularly toxic to the central nervous system (CNS). Deficiency of this enzyme complex leads to high levels of the branched-chain amino acids (BCAA) leucine, valine, and isoleucine. Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país.ĭoença da urina de xarope de bordo DXB Erros inatos do metabolismo Diagnóstico No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. 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.
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