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 G., Tirelli,Kristiane M., Medeiros,Fernanda, Bitencourt,Fernanda Hendges de, Civallero,Gabriel, Kubaski,Francyne, Bravo,Heydy, Daher,Antoine, Carnier,Vanessa, Franco,José F. S., Giugliani,Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400107
Resumo: Abstract 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 disease-associated 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 Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assaysInborn errors of metabolismnewborn screeningenzymesAbstract 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 disease-associated 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.Sociedade Brasileira de Genética2020-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400107Genetics and Molecular Biology v.43 n.2 2020reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0334info:eu-repo/semantics/openAccessBender,FernandaBurin,Maira G.Tirelli,Kristiane M.Medeiros,FernandaBitencourt,Fernanda Hendges deCivallero,GabrielKubaski,FrancyneBravo,HeydyDaher,AntoineCarnier,VanessaFranco,José F. S.Giugliani,Robertoeng2020-05-26T00:00:00Zoai:scielo:S1415-47572020000400107Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2020-05-26T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.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
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 G.
Tirelli,Kristiane M.
Medeiros,Fernanda
Bitencourt,Fernanda Hendges de
Civallero,Gabriel
Kubaski,Francyne
Bravo,Heydy
Daher,Antoine
Carnier,Vanessa
Franco,José F. S.
Giugliani,Roberto
author_role author
author2 Burin,Maira G.
Tirelli,Kristiane M.
Medeiros,Fernanda
Bitencourt,Fernanda Hendges de
Civallero,Gabriel
Kubaski,Francyne
Bravo,Heydy
Daher,Antoine
Carnier,Vanessa
Franco,José F. S.
Giugliani,Roberto
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Bender,Fernanda
Burin,Maira G.
Tirelli,Kristiane M.
Medeiros,Fernanda
Bitencourt,Fernanda Hendges de
Civallero,Gabriel
Kubaski,Francyne
Bravo,Heydy
Daher,Antoine
Carnier,Vanessa
Franco,José F. S.
Giugliani,Roberto
dc.subject.por.fl_str_mv Inborn errors of metabolism
newborn screening
enzymes
topic Inborn errors of metabolism
newborn screening
enzymes
description Abstract 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 disease-associated 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.none.fl_str_mv 2020-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400107
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400107
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2018-0334
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.43 n.2 2020
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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instname_str Sociedade Brasileira de Genética (SBG)
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collection Genetics and Molecular Biology
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