Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays

Detalhes bibliográficos
Autor(a) principal: Bender, Fernanda
Data de Publicação: 2020
Outros Autores: 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
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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spelling 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
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dc.language.iso.fl_str_mv eng
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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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