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

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 gen...

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Main Authors: Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza
Format: Article
Language:Portuguese
Published: Brazilian Society of Pediatrics 2015-05-01
Series:Jornal de Pediatria (Versão em Português)
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2255553615000373
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author Silvani Herber
Ida Vanessa D. Schwartz
Tatiéle Nalin
Cristina Brinkmann Oliveira Netto
José Simon Camelo Junior
Mara Lúcia Santos
Erlane Marques Ribeiro
Lavinia Schüler‐Faccini
Carolina Fischinger Moura de Souza
author_facet Silvani Herber
Ida Vanessa D. Schwartz
Tatiéle Nalin
Cristina Brinkmann Oliveira Netto
José Simon Camelo Junior
Mara Lúcia Santos
Erlane Marques Ribeiro
Lavinia Schüler‐Faccini
Carolina Fischinger Moura de Souza
author_sort Silvani Herber
collection DOAJ
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.
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spelling doaj.art-cc528e2cf75b464083da7c65c865e88a2022-12-22T03:56:10ZporBrazilian Society of PediatricsJornal de Pediatria (Versão em Português)2255-55362015-05-0191329229810.1016/j.jpedp.2015.03.006Maple syrup urine disease in Brazil: a panorama of the last two decadesSilvani Herber0Ida Vanessa D. Schwartz1Tatiéle Nalin2Cristina Brinkmann Oliveira Netto3José Simon Camelo Junior4Mara Lúcia Santos5Erlane Marques Ribeiro6Lavinia Schüler‐Faccini7Carolina Fischinger Moura de Souza8Programa de Pós‐Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilPrograma de Pós‐Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilRede DXB, Porto Alegre, RS, BrasilRede DXB, Porto Alegre, RS, BrasilRede DXB, Porto Alegre, RS, BrasilPrograma de Pós‐Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrasilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrasilObjective: 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.http://www.sciencedirect.com/science/article/pii/S2255553615000373Maple syrup urine diseaseMSUDInborn errors of metabolismDiagnosis
spellingShingle Silvani Herber
Ida Vanessa D. Schwartz
Tatiéle Nalin
Cristina Brinkmann Oliveira Netto
José Simon Camelo Junior
Mara Lúcia Santos
Erlane Marques Ribeiro
Lavinia Schüler‐Faccini
Carolina Fischinger Moura de Souza
Maple syrup urine disease in Brazil: a panorama of the last two decades
Jornal de Pediatria (Versão em Português)
Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
title 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_short 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
topic Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
url http://www.sciencedirect.com/science/article/pii/S2255553615000373
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