Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients

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dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorSozmen, Eser
dc.contributor.authorDuman, Soner
dc.contributor.authorBasci, Ali
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T21:40:45Z
dc.date.available2019-10-27T21:40:45Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractFabry disease is an X-linked lysosomal storage disorder due to deficient activity of alpha-galactosidase A (alpha-Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of alpha-Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis population. The activity of plasma alpha-Gal A was measured in a group of 808 male hemodialysis patients using fluorimetric methods. Patients with low alpha-Gal A activity were evaluated clinically and genetic testing was carried out. A correlation with creatinine, uric acid, urea, white blood cell (WBC), and high sensitivity (hs)CRP and alpha-Gal A activity was also investigated. Plasma a-Gal A activity among this male population undergoing hemodialysis was 7.88 +/- 5.18 mu M/hour/L (0.4055.72), significantly lower when compared to controls. No influence of creatinine, uric acid, WBC, or hsCRP on measured alpha-Gal A activity was reported. Two new Fabry disease patients were identified. Both were previously diagnosed with diabetes mellitus type 2. These findings provide, for the first time, data regarding the prevalence of alpha-Gal A deficiency (0.24%) in Turkish males receiving hemodialysis.en_US
dc.identifier.doi10.1111/j.1744-9987.2012.01092.xen_US
dc.identifier.endpage565en_US
dc.identifier.issn1744-9979
dc.identifier.issn1744-9987
dc.identifier.issue6en_US
dc.identifier.pmid23190516en_US
dc.identifier.startpage560en_US
dc.identifier.urihttps://doi.org/10.1111/j.1744-9987.2012.01092.x
dc.identifier.urihttps://hdl.handle.net/11454/46331
dc.identifier.volume16en_US
dc.identifier.wosWOS:000311856500007en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofTherapeutic Apheresis and Dialysisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAlpha-galactosidase Aen_US
dc.subjectFabry diseaseen_US
dc.subjectHemodialysisen_US
dc.subjectMaleen_US
dc.titleAlpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patientsen_US
dc.typeArticleen_US

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