A database for screening and registering late onset Pompe disease in Turkey

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dc.contributor.authorGokyigit, Munevver Celik
dc.contributor.authorEkmekci, Hakan
dc.contributor.authorDurmus, Hacer
dc.contributor.authorKarll, Necdet
dc.contributor.authorKoseoglu, Emel
dc.contributor.authorAysal, Fikret
dc.contributor.authorKotan, Dilcan
dc.date.accessioned2024-03-13T10:35:07Z
dc.date.available2024-03-13T10:35:07Z
dc.date.issued2018
dc.departmentİstanbul Beykent Üniversitesien_US
dc.description.abstractThe aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.nmd.2017.12.008
dc.identifier.endpage267en_US
dc.identifier.issn0960-8966
dc.identifier.issn1873-2364
dc.identifier.issue3en_US
dc.identifier.pmid29395671en_US
dc.identifier.scopus2-s2.0-85041609610en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage262en_US
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2017.12.008
dc.identifier.urihttps://hdl.handle.net/20.500.12662/4250
dc.identifier.volume28en_US
dc.identifier.wosWOS:000430763800010en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherPergamon-Elsevier Science Ltden_US
dc.relation.ispartofNeuromuscular Disordersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLOPDen_US
dc.subjectRegistryen_US
dc.subjectLimb girdle muscle weaknessen_US
dc.subjectAcid alpha glucosidaseen_US
dc.titleA database for screening and registering late onset Pompe disease in Turkeyen_US
dc.typeArticleen_US

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