Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested

Detalhes bibliográficos
Autor(a) principal: Segal, Sandra Leistner
Data de Publicação: 2013
Outros Autores: Bender, Fernanda, Bochernitsan, Aline, Boa Sorte, Tatiana Regia Suzana Amorim, Acosta, Angelina Xavier, Motta, Fabiana Costa, Purificação, Antônio da, Burim, Maira, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13420
Resumo: Texto completo. Acesso restrito. p. 60
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spelling Segal, Sandra LeistnerBender, FernandaBochernitsan, AlineBoa Sorte, Tatiana Regia Suzana AmorimAcosta, Angelina XavierMotta, Fabiana CostaPurificação, Antônio daBurim, MairaGiugliani, RobertoSegal, Sandra LeistnerBender, FernandaBochernitsan, AlineBoa Sorte, Tatiana Regia Suzana AmorimAcosta, Angelina XavierMotta, Fabiana CostaPurificação, Antônio daBurim, MairaGiugliani, Roberto2013-10-31T17:59:24Z20131096-7192http://repositorio.ufba.br/ri/handle/ri/13420v. 108, n. 2Texto completo. Acesso restrito. p. 60Mucopolysaccharidosis VI (MPS VI) is caused by deficiency of N-acetylgalactosamine 4-sulfatase (ARSB) resulting in storage of dermatan-sulphate in lysosomes and leading to progressive and severe bone dysplasia and to problems in many organs and systems. MPS VI is a very rare condition, which has a relatively high incidence in the county of Monte Santo, in Northeast Brazil (50,000 inhabitants, with 13 MPS VI cases identified thus far). A common mutation (H178L) was identified in all cases. As MPS VI can be treated with ERT and as there are indications that a better outcome may be expected in early treated cases, a newborn screening program for MPS VI was added to the program already in place for PKU, hypothyroidism and hemoglobin disorders, including ARSB assay and detection of the common mutation on DBS. The project started in January, 2011 and a total of 1,000 samples were analyzed through June, 2012. During this period, 55 samples showed ARSB enzyme activity below normal reference values, and 19 of them presented the specific mutation in heterozygosity. With these results we conclude that the methodology developed for MPS VI newborn screening is effective for early detection of the disease in the studied region. The frequency of heterozygotes found for the population of Monte Santo was considered significant, taking into account the disease rarity. The program is in progress, as an increased sample size will allow us to estimate more precisely the frequency of the mutation and the expected number of heterozygotes and homozygotes in the region, which will be important for a population medical genetics approach to the community, including genetic counseling, prenatal, diagnosis and early treatment.Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-04T17:20:00Z No. of bitstreams: 1 3333333333333333.pdf: 63743 bytes, checksum: d515459114b33b59e4c0fc8bbc0858ab (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-10-31T17:59:24Z (GMT) No. of bitstreams: 1 3333333333333333.pdf: 63743 bytes, checksum: d515459114b33b59e4c0fc8bbc0858ab (MD5)Made available in DSpace on 2013-10-31T17:59:24Z (GMT). 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dc.title.pt_BR.fl_str_mv Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
dc.title.alternative.pt_BR.fl_str_mv Molecular Genetics and Metabolism
title Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
spellingShingle Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
Segal, Sandra Leistner
title_short Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
title_full Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
title_fullStr Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
title_full_unstemmed Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
title_sort Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
author Segal, Sandra Leistner
author_facet Segal, Sandra Leistner
Bender, Fernanda
Bochernitsan, Aline
Boa Sorte, Tatiana Regia Suzana Amorim
Acosta, Angelina Xavier
Motta, Fabiana Costa
Purificação, Antônio da
Burim, Maira
Giugliani, Roberto
author_role author
author2 Bender, Fernanda
Bochernitsan, Aline
Boa Sorte, Tatiana Regia Suzana Amorim
Acosta, Angelina Xavier
Motta, Fabiana Costa
Purificação, Antônio da
Burim, Maira
Giugliani, Roberto
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Segal, Sandra Leistner
Bender, Fernanda
Bochernitsan, Aline
Boa Sorte, Tatiana Regia Suzana Amorim
Acosta, Angelina Xavier
Motta, Fabiana Costa
Purificação, Antônio da
Burim, Maira
Giugliani, Roberto
Segal, Sandra Leistner
Bender, Fernanda
Bochernitsan, Aline
Boa Sorte, Tatiana Regia Suzana Amorim
Acosta, Angelina Xavier
Motta, Fabiana Costa
Purificação, Antônio da
Burim, Maira
Giugliani, Roberto
description Texto completo. Acesso restrito. p. 60
publishDate 2013
dc.date.accessioned.fl_str_mv 2013-10-31T17:59:24Z
dc.date.issued.fl_str_mv 2013
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13420
dc.identifier.issn.none.fl_str_mv 1096-7192
dc.identifier.number.pt_BR.fl_str_mv v. 108, n. 2
identifier_str_mv 1096-7192
v. 108, n. 2
url http://repositorio.ufba.br/ri/handle/ri/13420
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Molecular Genetics and Metabolism
publisher.none.fl_str_mv Molecular Genetics and Metabolism
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1016/j.ymgme.2012.11.149
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
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