Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de Pediatria

Silvani Herber¹  Ida Vanessa D. Schwartz¹  Tatiéle Nalin¹  Cristina Brinkmann Oliveira Netto¹  José Simon Camelo Junior¹  Mara Lúcia Santos¹  Erlane Marques Ribeiro¹  Lavinia Schüler-faccini¹  Carolina Fischinger Moura De Souza¹ 

关键词: Maple syrup urine disease;    MSUD;    Inborn errors of metabolism;    Diagnosis;    Doença da urina de xarope de bordo;    DXB;    Erros inatos do metabolismo;    Diagnóstico;   

DOI  :  10.1016/j.jped.2014.08.010

来源: SciELO

【 摘 要 】

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. CONCLUSION: 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.

【 授权许可】

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