Metabolic Serendipities of Expanded Newborn Screening

Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but...

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Autores: Yahyaoui, Raquel, Blasco Alonso, Javier, Gonzalo Marín, Montserrat, Benito, Carmen, Serrano Nieto, Juliana, González Gallego, Inmaculada, Ruiz Sala, Pedro, Pérez, Belén, González-Lamuño Leguina, Domingo|||0000-0002-7578-241X
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/21890
Acceso en línea:http://hdl.handle.net/10902/21890
Access Level:acceso abierto
Palabra clave:Acylcarnitines
Amino Acids
Dried Blood Spot (DBS)
Hereditary Metabolic Disorders
Inborn Errors of Metabolism
Incidental Finding
Newborn Screening (NBS)
Next Generation Sequencing (NGS)
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spelling Metabolic Serendipities of Expanded Newborn ScreeningYahyaoui, RaquelBlasco Alonso, JavierGonzalo Marín, MontserratBenito, CarmenSerrano Nieto, JulianaGonzález Gallego, InmaculadaRuiz Sala, PedroPérez, BelénGonzález-Lamuño Leguina, Domingo|||0000-0002-7578-241XAcylcarnitinesAmino AcidsDried Blood Spot (DBS)Hereditary Metabolic DisordersInborn Errors of MetabolismIncidental FindingNewborn Screening (NBS)Next Generation Sequencing (NGS)Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future.Financial support was provided by grant PI19/01155 and the European Regional Development FundMDPIUniversidad de Cantabria20202020-01-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttp://hdl.handle.net/10902/21890Genes (Basel) . 2020 Aug 29;11(9):1018reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/218902026-06-02T12:39:31Z
dc.title.none.fl_str_mv Metabolic Serendipities of Expanded Newborn Screening
title Metabolic Serendipities of Expanded Newborn Screening
spellingShingle Metabolic Serendipities of Expanded Newborn Screening
Yahyaoui, Raquel
Acylcarnitines
Amino Acids
Dried Blood Spot (DBS)
Hereditary Metabolic Disorders
Inborn Errors of Metabolism
Incidental Finding
Newborn Screening (NBS)
Next Generation Sequencing (NGS)
title_short Metabolic Serendipities of Expanded Newborn Screening
title_full Metabolic Serendipities of Expanded Newborn Screening
title_fullStr Metabolic Serendipities of Expanded Newborn Screening
title_full_unstemmed Metabolic Serendipities of Expanded Newborn Screening
title_sort Metabolic Serendipities of Expanded Newborn Screening
dc.creator.none.fl_str_mv Yahyaoui, Raquel
Blasco Alonso, Javier
Gonzalo Marín, Montserrat
Benito, Carmen
Serrano Nieto, Juliana
González Gallego, Inmaculada
Ruiz Sala, Pedro
Pérez, Belén
González-Lamuño Leguina, Domingo|||0000-0002-7578-241X
author Yahyaoui, Raquel
author_facet Yahyaoui, Raquel
Blasco Alonso, Javier
Gonzalo Marín, Montserrat
Benito, Carmen
Serrano Nieto, Juliana
González Gallego, Inmaculada
Ruiz Sala, Pedro
Pérez, Belén
González-Lamuño Leguina, Domingo|||0000-0002-7578-241X
author_role author
author2 Blasco Alonso, Javier
Gonzalo Marín, Montserrat
Benito, Carmen
Serrano Nieto, Juliana
González Gallego, Inmaculada
Ruiz Sala, Pedro
Pérez, Belén
González-Lamuño Leguina, Domingo|||0000-0002-7578-241X
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad de Cantabria
dc.subject.none.fl_str_mv Acylcarnitines
Amino Acids
Dried Blood Spot (DBS)
Hereditary Metabolic Disorders
Inborn Errors of Metabolism
Incidental Finding
Newborn Screening (NBS)
Next Generation Sequencing (NGS)
topic Acylcarnitines
Amino Acids
Dried Blood Spot (DBS)
Hereditary Metabolic Disorders
Inborn Errors of Metabolism
Incidental Finding
Newborn Screening (NBS)
Next Generation Sequencing (NGS)
description Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
NA
http://purl.org/coar/version/c_be7fb7dd8ff6fe43
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10902/21890
url http://hdl.handle.net/10902/21890
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Genes (Basel) . 2020 Aug 29;11(9):1018
reponame:UCrea Repositorio Abierto de la Universidad de Cantabria
instname:Universidad de Cantabria (UC)
instname_str Universidad de Cantabria (UC)
reponame_str UCrea Repositorio Abierto de la Universidad de Cantabria
collection UCrea Repositorio Abierto de la Universidad de Cantabria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301603

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