Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/214131 |
Resumo: | Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, substrates and samples for: mucopolysaccharidosis (MPS) type I (MPS I), MPS VI, Fabry, Gaucher, and Pompe diseases. We also evaluated the advantages of including blood chitotriosidase and urinary glycosaminoglycans in the protocol. By the measurement of the specific diseaseassociated enzymes (plus blood chitotriosidase and urinary glycosaminoglycans) we analyzed 834 de-identified DBS of unselected newborns. No positive case was detected, and the false-positive rates were low. Taking into consideration the limitations of this methodology, we believe that, after defining proper cutoffs, it could be a viable alternative to provide NBS for LSDs by laboratories that may not be able to afford the commercial methods available. |
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Bender, FernandaBurin, Maira GraeffMedeiros, FernandaBitencourt, Fernanda Hendges deCivallero, Gabriel Eduardo SantiagoKubaski, FrancyneBravo, HeydyDaher, AntonioCarnier, VanessaFranco, José FrancoGiugliani, Roberto2020-10-14T03:48:42Z20201415-4757http://hdl.handle.net/10183/214131001117781Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, substrates and samples for: mucopolysaccharidosis (MPS) type I (MPS I), MPS VI, Fabry, Gaucher, and Pompe diseases. We also evaluated the advantages of including blood chitotriosidase and urinary glycosaminoglycans in the protocol. By the measurement of the specific diseaseassociated enzymes (plus blood chitotriosidase and urinary glycosaminoglycans) we analyzed 834 de-identified DBS of unselected newborns. No positive case was detected, and the false-positive rates were low. Taking into consideration the limitations of this methodology, we believe that, after defining proper cutoffs, it could be a viable alternative to provide NBS for LSDs by laboratories that may not be able to afford the commercial methods available.application/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 43, n. 2 (2020), e20180334, 6 p.Erros inatos do metabolismoTriagem neonatalEnzimasFluorometriaDoenças por armazenamento dos lisossomosInborn errors of metabolismNewborn screeningEnzymesNewborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assaysinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001117781.pdf.txt001117781.pdf.txtExtracted Texttext/plain25631http://www.lume.ufrgs.br/bitstream/10183/214131/2/001117781.pdf.txt33ffe5fa2efed1805bd04ecffa6e6cfeMD52ORIGINAL001117781.pdfTexto completo (inglês)application/pdf581149http://www.lume.ufrgs.br/bitstream/10183/214131/1/001117781.pdf69e6c30d7a03736dc27dcd87ef702587MD5110183/2141312023-06-29 03:29:53.032932oai:www.lume.ufrgs.br:10183/214131Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-06-29T06:29:53Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
title |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
spellingShingle |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays Bender, Fernanda Erros inatos do metabolismo Triagem neonatal Enzimas Fluorometria Doenças por armazenamento dos lisossomos Inborn errors of metabolism Newborn screening Enzymes |
title_short |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
title_full |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
title_fullStr |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
title_full_unstemmed |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
title_sort |
Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays |
author |
Bender, Fernanda |
author_facet |
Bender, Fernanda Burin, Maira Graeff Medeiros, Fernanda Bitencourt, Fernanda Hendges de Civallero, Gabriel Eduardo Santiago Kubaski, Francyne Bravo, Heydy Daher, Antonio Carnier, Vanessa Franco, José Franco Giugliani, Roberto |
author_role |
author |
author2 |
Burin, Maira Graeff Medeiros, Fernanda Bitencourt, Fernanda Hendges de Civallero, Gabriel Eduardo Santiago Kubaski, Francyne Bravo, Heydy Daher, Antonio Carnier, Vanessa Franco, José Franco Giugliani, Roberto |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Bender, Fernanda Burin, Maira Graeff Medeiros, Fernanda Bitencourt, Fernanda Hendges de Civallero, Gabriel Eduardo Santiago Kubaski, Francyne Bravo, Heydy Daher, Antonio Carnier, Vanessa Franco, José Franco Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Erros inatos do metabolismo Triagem neonatal Enzimas Fluorometria Doenças por armazenamento dos lisossomos |
topic |
Erros inatos do metabolismo Triagem neonatal Enzimas Fluorometria Doenças por armazenamento dos lisossomos Inborn errors of metabolism Newborn screening Enzymes |
dc.subject.eng.fl_str_mv |
Inborn errors of metabolism Newborn screening Enzymes |
description |
Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, substrates and samples for: mucopolysaccharidosis (MPS) type I (MPS I), MPS VI, Fabry, Gaucher, and Pompe diseases. We also evaluated the advantages of including blood chitotriosidase and urinary glycosaminoglycans in the protocol. By the measurement of the specific diseaseassociated enzymes (plus blood chitotriosidase and urinary glycosaminoglycans) we analyzed 834 de-identified DBS of unselected newborns. No positive case was detected, and the false-positive rates were low. Taking into consideration the limitations of this methodology, we believe that, after defining proper cutoffs, it could be a viable alternative to provide NBS for LSDs by laboratories that may not be able to afford the commercial methods available. |
publishDate |
2020 |
dc.date.accessioned.fl_str_mv |
2020-10-14T03:48:42Z |
dc.date.issued.fl_str_mv |
2020 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
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article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/214131 |
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1415-4757 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001117781 |
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http://hdl.handle.net/10183/214131 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto. Vol. 43, n. 2 (2020), e20180334, 6 p. |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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