Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100311 |
Resumo: | Abstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatography–tandem mass spectrometry. Around 20 000 newborn samples were analyzed for 3 lysosomal enzyme activities: ?-glucosidase (deficient in Pompe disease), ?-galactosidase (deficient in Fabry disease) and ?-iduronidase (IDUA, deficient in MPS I). Data were used for statistical analysis and to establish sex- and age-dependent reference ranges. Statistically significant higher ?-glucosidase, ?-galactosidase, and IDUA enzyme activities were observed in female newborns compared to male newborns. Newborns with a higher gestational age have a statistically significant lower ?-glucosidase, ?-galactosidase, and IDUA enzyme activities compared to newborns with a lower gestational age. For the first time, the data of a large-scale LSD study were used to assess statistical differences in enzyme activity in the newborn population, and these data highlight the importance of using reference intervals for lysosomal enzyme activities in function of sex and gestational age. |
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Journal of Inborn Errors of Metabolism and Screening |
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Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Rangesneonatal screeninglysosomal storage diseasestandem mass spectrometrycutoffdried blood spotsAbstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatography–tandem mass spectrometry. Around 20 000 newborn samples were analyzed for 3 lysosomal enzyme activities: ?-glucosidase (deficient in Pompe disease), ?-galactosidase (deficient in Fabry disease) and ?-iduronidase (IDUA, deficient in MPS I). Data were used for statistical analysis and to establish sex- and age-dependent reference ranges. Statistically significant higher ?-glucosidase, ?-galactosidase, and IDUA enzyme activities were observed in female newborns compared to male newborns. Newborns with a higher gestational age have a statistically significant lower ?-glucosidase, ?-galactosidase, and IDUA enzyme activities compared to newborns with a lower gestational age. For the first time, the data of a large-scale LSD study were used to assess statistical differences in enzyme activity in the newborn population, and these data highlight the importance of using reference intervals for lysosomal enzyme activities in function of sex and gestational age.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2017-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100311Journal of Inborn Errors of Metabolism and Screening v.5 2017reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409817744231info:eu-repo/semantics/openAccessEyskens,FrancoisDevos,Sylvieeng2019-05-14T00:00:00Zoai:scielo:S2326-45942017000100311Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-14T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
title |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
spellingShingle |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges Eyskens,Francois neonatal screening lysosomal storage diseases tandem mass spectrometry cutoff dried blood spots |
title_short |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
title_full |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
title_fullStr |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
title_full_unstemmed |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
title_sort |
Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges |
author |
Eyskens,Francois |
author_facet |
Eyskens,Francois Devos,Sylvie |
author_role |
author |
author2 |
Devos,Sylvie |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Eyskens,Francois Devos,Sylvie |
dc.subject.por.fl_str_mv |
neonatal screening lysosomal storage diseases tandem mass spectrometry cutoff dried blood spots |
topic |
neonatal screening lysosomal storage diseases tandem mass spectrometry cutoff dried blood spots |
description |
Abstract Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatography–tandem mass spectrometry. Around 20 000 newborn samples were analyzed for 3 lysosomal enzyme activities: ?-glucosidase (deficient in Pompe disease), ?-galactosidase (deficient in Fabry disease) and ?-iduronidase (IDUA, deficient in MPS I). Data were used for statistical analysis and to establish sex- and age-dependent reference ranges. Statistically significant higher ?-glucosidase, ?-galactosidase, and IDUA enzyme activities were observed in female newborns compared to male newborns. Newborns with a higher gestational age have a statistically significant lower ?-glucosidase, ?-galactosidase, and IDUA enzyme activities compared to newborns with a lower gestational age. For the first time, the data of a large-scale LSD study were used to assess statistical differences in enzyme activity in the newborn population, and these data highlight the importance of using reference intervals for lysosomal enzyme activities in function of sex and gestational age. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100311 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100311 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409817744231 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.5 2017 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732519981318144 |