Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines

Detalhes bibliográficos
Autor(a) principal: Borrajo,Gustavo J. C.
Data de Publicação: 2016
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=S2326-45942016000100320
Resumo: Abstract Newborn screening (NBS) for phenylketonuria in Latin America gave its first step in an organized way 3 decades ago when the first national NBS program was implemented in Cuba. From then onward, it experienced a slow but continuous growing, being currently possible to find from countries where no NBS activity is known to several countries with consolidated NBS programs. This complex scenario gave rise to a great diversity in the criteria used for sample collection, selection of analytical methods, and definition of cutoff values. Considering this context, a consensus meeting was held in order to unify such criteria, focusing the discussion in the following aspects—recommended blood specimens and sample collection time; influence of early discharge, fasting, parenteral nutrition, blood transfusions, extracorporeal life support, and antibiotics; main causes of transient hyperphenylalaninemias; required characteristics for methods used in phenylalanine measurement; and finally, criteria to define the more appropriate cutoff values.
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spelling Newborn Screening for Phenylketonuria: Latin American Consensus Guidelinesphenylketonuriahyperphenylalaninemianewborn screeningsample collectionmethodscutoff valuesAbstract Newborn screening (NBS) for phenylketonuria in Latin America gave its first step in an organized way 3 decades ago when the first national NBS program was implemented in Cuba. From then onward, it experienced a slow but continuous growing, being currently possible to find from countries where no NBS activity is known to several countries with consolidated NBS programs. This complex scenario gave rise to a great diversity in the criteria used for sample collection, selection of analytical methods, and definition of cutoff values. Considering this context, a consensus meeting was held in order to unify such criteria, focusing the discussion in the following aspects—recommended blood specimens and sample collection time; influence of early discharge, fasting, parenteral nutrition, blood transfusions, extracorporeal life support, and antibiotics; main causes of transient hyperphenylalaninemias; required characteristics for methods used in phenylalanine measurement; and finally, criteria to define the more appropriate cutoff values.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2016-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100320Journal of Inborn Errors of Metabolism and Screening v.4 2016reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409816682764info:eu-repo/semantics/openAccessBorrajo,Gustavo J. C.eng2019-05-28T00:00:00Zoai:scielo:S2326-45942016000100320Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-28T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false
dc.title.none.fl_str_mv Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
title Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
spellingShingle Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
Borrajo,Gustavo J. C.
phenylketonuria
hyperphenylalaninemia
newborn screening
sample collection
methods
cutoff values
title_short Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
title_full Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
title_fullStr Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
title_full_unstemmed Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
title_sort Newborn Screening for Phenylketonuria: Latin American Consensus Guidelines
author Borrajo,Gustavo J. C.
author_facet Borrajo,Gustavo J. C.
author_role author
dc.contributor.author.fl_str_mv Borrajo,Gustavo J. C.
dc.subject.por.fl_str_mv phenylketonuria
hyperphenylalaninemia
newborn screening
sample collection
methods
cutoff values
topic phenylketonuria
hyperphenylalaninemia
newborn screening
sample collection
methods
cutoff values
description Abstract Newborn screening (NBS) for phenylketonuria in Latin America gave its first step in an organized way 3 decades ago when the first national NBS program was implemented in Cuba. From then onward, it experienced a slow but continuous growing, being currently possible to find from countries where no NBS activity is known to several countries with consolidated NBS programs. This complex scenario gave rise to a great diversity in the criteria used for sample collection, selection of analytical methods, and definition of cutoff values. Considering this context, a consensus meeting was held in order to unify such criteria, focusing the discussion in the following aspects—recommended blood specimens and sample collection time; influence of early discharge, fasting, parenteral nutrition, blood transfusions, extracorporeal life support, and antibiotics; main causes of transient hyperphenylalaninemias; required characteristics for methods used in phenylalanine measurement; and finally, criteria to define the more appropriate cutoff values.
publishDate 2016
dc.date.none.fl_str_mv 2016-01-01
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=S2326-45942016000100320
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100320
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1177/2326409816682764
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.4 2016
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
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