The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population

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dc.contributor.authorCanbay, Erhan
dc.contributor.authorVural, Melisa
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorSezer, Ebru Demirel
dc.contributor.authorKarasoy, Hatice
dc.contributor.authorYuceyar, Ayse Nur
dc.contributor.authorSozmen, Eser Yildirim
dc.date.accessioned2020-12-01T12:02:16Z
dc.date.available2020-12-01T12:02:16Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Recently, urinary excretion of the tetrasaccharide 6-alpha-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantileand late-onset Pompe patients in the Turkish population. Methods: in this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results: Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = -0.256). It was higher especially during the first year of life compared to that in the elder subjects. the tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 +/- 68 mmol/mol creatinine for infantile onset vs. 4.0 +/- 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 +/- 17.4 mmol/mol creatinine for late onset vs. 1.7 +/- 1.2 mmol/mol creatinine for healthy controls of the same age group. Conclusions: the results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define agebased decision levels for the diagnosis of LOPD.en_US
dc.identifier.doi10.1515/jpem-2019-0393en_US
dc.identifier.endpage395en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue3en_US
dc.identifier.pmid32069240en_US
dc.identifier.scopus2-s2.0-85081091283en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage391en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2019-0393
dc.identifier.urihttps://hdl.handle.net/11454/62636
dc.identifier.volume33en_US
dc.identifier.wosWOS:000518863100010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPompe diseaseen_US
dc.subjectreference intervalsen_US
dc.subjecttetrasaccharide 6-alpha-D-glucopyranosyl-maltotrioseen_US
dc.titleThe decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish populationen_US
dc.typeArticleen_US

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