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

Detalhes bibliográficos
Autor(a) principal: Herber,Silvani
Data de Publicação: 2015
Outros Autores: Schwartz,Ida Vanessa D., Nalin,Tatiéle, Netto,Cristina Brinkmann Oliveira, Camelo Junior,José Simon, Santos,Mara Lúcia, Ribeiro,Erlane Marques, Schüler-Faccini,Lavinia, Souza,Carolina Fischinger Moura de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal de Pediatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292
Resumo: 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.
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spelling Maple syrup urine disease in Brazil: a panorama of the last two decades Maple syrup urine diseaseMSUDInborn errors of metabolismDiagnosis 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. Sociedade Brasileira de Pediatria2015-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292Jornal de Pediatria v.91 n.3 2015reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2014.08.010info:eu-repo/semantics/openAccessHerber,SilvaniSchwartz,Ida Vanessa D.Nalin,TatiéleNetto,Cristina Brinkmann OliveiraCamelo Junior,José SimonSantos,Mara LúciaRibeiro,Erlane MarquesSchüler-Faccini,LaviniaSouza,Carolina Fischinger Moura deeng2015-07-16T00:00:00Zoai:scielo:S0021-75572015000300292Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2015-07-16T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false
dc.title.none.fl_str_mv Maple syrup urine disease in Brazil: a panorama of the last two decades
title Maple syrup urine disease in Brazil: a panorama of the last two decades
spellingShingle Maple syrup urine disease in Brazil: a panorama of the last two decades
Herber,Silvani
Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
title_short Maple syrup urine disease in Brazil: a panorama of the last two decades
title_full Maple syrup urine disease in Brazil: a panorama of the last two decades
title_fullStr Maple syrup urine disease in Brazil: a panorama of the last two decades
title_full_unstemmed Maple syrup urine disease in Brazil: a panorama of the last two decades
title_sort Maple syrup urine disease in Brazil: a panorama of the last two decades
author Herber,Silvani
author_facet Herber,Silvani
Schwartz,Ida Vanessa D.
Nalin,Tatiéle
Netto,Cristina Brinkmann Oliveira
Camelo Junior,José Simon
Santos,Mara Lúcia
Ribeiro,Erlane Marques
Schüler-Faccini,Lavinia
Souza,Carolina Fischinger Moura de
author_role author
author2 Schwartz,Ida Vanessa D.
Nalin,Tatiéle
Netto,Cristina Brinkmann Oliveira
Camelo Junior,José Simon
Santos,Mara Lúcia
Ribeiro,Erlane Marques
Schüler-Faccini,Lavinia
Souza,Carolina Fischinger Moura de
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Herber,Silvani
Schwartz,Ida Vanessa D.
Nalin,Tatiéle
Netto,Cristina Brinkmann Oliveira
Camelo Junior,José Simon
Santos,Mara Lúcia
Ribeiro,Erlane Marques
Schüler-Faccini,Lavinia
Souza,Carolina Fischinger Moura de
dc.subject.por.fl_str_mv Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
topic Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
description 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.
publishDate 2015
dc.date.none.fl_str_mv 2015-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.jped.2014.08.010
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
publisher.none.fl_str_mv Sociedade Brasileira de Pediatria
dc.source.none.fl_str_mv Jornal de Pediatria v.91 n.3 2015
reponame:Jornal de Pediatria (Online)
instname:Sociedade Brasileira de Pediatria (SBP)
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instname_str Sociedade Brasileira de Pediatria (SBP)
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reponame_str Jornal de Pediatria (Online)
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repository.mail.fl_str_mv ||jped@jped.com.br
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