NMR-based newborn urine screening for optimized detection of inherited errors of metabolism
dc.contributor.author | Embade, Nieves | |
dc.contributor.author | Cannet, Claire | |
dc.contributor.author | Diercks, Tammo | |
dc.contributor.author | Gil Redondo, Rubén | |
dc.contributor.author | Bruzzone, Chiara | |
dc.contributor.author | Ansó Olivan, Sara | |
dc.contributor.author | Román Echevarría, Lourdes | |
dc.contributor.author | Martínez Ayucar, María De Las Mercedes | |
dc.contributor.author | Collazos, Laura | |
dc.contributor.author | Lodoso, Blanca | |
dc.contributor.author | Guerra, Eneritz | |
dc.contributor.author | Asla Elorriaga, Izaskun | |
dc.contributor.author | Kortajarena, Miguel Ángel | |
dc.contributor.author | Pérez Legorburu, Alberto | |
dc.contributor.author | Fang, Fang | |
dc.contributor.author | Astigarraga Aguirre, María Iciar | |
dc.contributor.author | Schaefer, Hartmut | |
dc.contributor.author | Spraul, Manfred | |
dc.contributor.author | Millet Aguilar-Galindo, Oscar | |
dc.date.accessioned | 2020-01-10T11:51:22Z | |
dc.date.available | 2020-01-10T11:51:22Z | |
dc.date.issued | 2019-09-10 | |
dc.identifier.citation | Scientific Reports 9 : (2019) // Article ID 13067 | es_ES |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10810/37576 | |
dc.description.abstract | Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and powerful tool for IEM detection in newborns, children, and adults with late onset. In here, we screened urine samples from a large set of neonates (470 individuals) from a homogeneous population (Basque Country), for the identification of congenital metabolic diseases using NMR spectroscopy. Absolute quantification allowed to derive a probability function for up to 66 metabolites that adequately describes their normal concentration ranges in newborns from the Basque Country. The absence of another 84 metabolites, considered abnormal, was routinely verified in the healthy newborn population and confirmed for all but 2 samples, of which one showed toxic concentrations of metabolites associated to ketosis and the other one a high trimethylamine concentration that strongly suggested an episode of trimethylaminuria. Thus, a non-invasive and readily accessible urine sample contains enough information to assess the potential existence of a substantial number (>70) of IEMs in newborns, using a single, automated and standardized H-1-NMR-based analysis. | es_ES |
dc.description.sponsorship | The authors thank the collaboration of the Basque Biobank/BioCruces Node www.biobancovasco.org for collecting the samples and data from the neonates included in this study. Support was provided from The Department of Industry, Tourism and Trade of the Government of the Autonomous Community of the Basque Country (Elkartek BG2015 & BG2017); grant from Agencia Estatal de Investigacion (Spain) CTQ2015-68756-R and for the Severo Ochoa Excellence Accreditation (SEV-2016-0644). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Nature Publishing | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | inborn-errors | es_ES |
dc.subject | H-1-NMR spectroscopy | es_ES |
dc.subject | body-fluids | es_ES |
dc.subject | metabonomics | es_ES |
dc.title | NMR-based newborn urine screening for optimized detection of inherited errors of metabolism | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made (CC BY 4.0) | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.nature.com/articles/s41598-019-49685-x | es_ES |
dc.identifier.doi | 10.1038/s41598-019-49685-x | |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Pediatria | es_ES |
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Except where otherwise noted, this item's license is described as Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made (CC BY 4.0)