NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates

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dc.contributor.authorAygen, Sitke
dc.contributor.authorDuerr, Ulrich
dc.contributor.authorHegele, Peter
dc.contributor.authorKunig, Johannes
dc.contributor.authorSpraul, Manfred
dc.contributor.authorSchaefer, Hartmut
dc.contributor.authorTuncer, Oğuz
dc.date.accessioned2020-06-25T18:12:33Z
dc.date.available2020-06-25T18:12:33Z
dc.date.issued2014
dc.departmentKırıkkale Üniversitesi
dc.descriptionOrs, Rahmi/0000-0002-9089-1067
dc.description.abstractApproximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative. We conducted a multi-center clinical study in 14 clinical centers in Turkey. Urine samples from 989 neonates were collected and investigated by using NMR spectroscopy in two different laboratories. The primary objective of the present study was to explore the range of variation of concentration and chemical shifts of specific metabolites without clinically relevant findings that can be detected in the urine of Turkish neonates. The secondary objective was the integration of the results from a healthy reference population of neonates into an NMR database, for routine and completely automatic screening of congenital metabolic diseases. Both targeted and untargeted analyses were performed on the data. Targeted analysis was aimed at 65 metabolites. Limits of detection and quantitation were determined by generating urine spectra, in which known concentrations of the analytes were added electronically as well as by real spiking. Untargeted analysis involved analysis of the whole spectrum for abnormal features, using statistical procedures, including principal component analysis. Outliers were eliminated by model building. Untargeted analysis was used to detect known and unknown compounds and jaundice, proteinuria, and acidemia. The results will be used to establish a database to detect pathological concentration ranges and for routine screening.en_US
dc.identifier.citationAygen S, Dürr U, Hegele P, Kunig J, Spraul M, Schäfer H, Krings D, Cannet C, Fang F, Schütz B, Bülbül SF, Aydin HI, Sarıcı SU, Yalaz M, Ors R, Atalan R, Tuncer O. NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates. JIMD Rep. 2014;16:101-11. doi: 10.1007/8904_2014_326. Epub 2014 Jul 11. PMID: 25012580; PMCID: PMC4221306.en_US
dc.identifier.doi10.1007/8904_2014_326
dc.identifier.endpage111en_US
dc.identifier.isbn978-3-662-44587-7; 978-3-662-44586-0
dc.identifier.issn2192-8304
dc.identifier.pmid25012580
dc.identifier.scopus2-s2.0-84973236606
dc.identifier.scopusqualityQ2
dc.identifier.startpage101en_US
dc.identifier.urihttps://doi.org/10.1007/8904_2014_326
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5963
dc.identifier.volume16en_US
dc.identifier.wosWOS:000376979100015
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer-Verlag Berlinen_US
dc.relation.ispartofJimd Reports, Vol 16
dc.relation.ispartofseriesJIMD Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleNMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonatesen_US
dc.typeArticle

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