Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

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dc.contributor.authorYazici, Havva
dc.contributor.authorCanda, Ebru
dc.contributor.authorEr, Esra
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorOnay, Huseyin
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:42:04Z
dc.date.available2019-10-27T10:42:04Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS)enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, biochemical and molecular characteristics of fifteen patients with MPS II in western Turkey. Materials and Methods: A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit of Pediatric Metabolic Diseases and Nutrition between October 2004 and September 2017. Results: The age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis. The most common symptom was coarse face. On physical examination, all of the patients presented with coarse face, macrocephalyand organomegaly. Except for one patient, all other were severe phenotype. IDS activity was significantly decreased in all patients in whom enzyme analysis was performed. In this study, one novel mutation was described. Conclusion: This is the first study on the clinical and molecular characterization of Turkish MPS II patients. The majority of the patients had neurologic involvement with different degrees of severity. The molecular analysis revealed one novel mutation.en_US
dc.identifier.doi10.4274/jpr.36025
dc.identifier.endpage38en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue1en_US
dc.identifier.startpage34en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.36025
dc.identifier.urihttps://hdl.handle.net/11454/30604
dc.identifier.volume5en_US
dc.identifier.wosWOS:000436882600008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMucopolysaccharidosis Type IIen_US
dc.subjectHunter syndromeen_US
dc.subjectlysosomal storage diseaseen_US
dc.subjectTurkeyen_US
dc.titleClinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkeyen_US
dc.typeArticleen_US

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