Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

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dc.contributor.authorEr, Esra
dc.contributor.authorCanda, Ebru
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorSozmen, Eser
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T23:09:46Z
dc.date.available2019-10-27T23:09:46Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Mucopolysaccharidosis (MPS) type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity vary. We evaluated clinical, laboratory and follow-up findings of 11 patients diagnosed with MPS type VI between the years 1996-2016 by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease, Division of Metabolism and Nutrition to raise awareness in clinicians. Materials and Methods: Eleven patients with MPS type VI between the years1996-2016 were evaluated by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease Division of Metabolism and Nutrition. We analyzed the diagnostic, clinical, laboratory and follow-up findings of the patients. Results: Eleven patients (55% male) were evaluated. The mean age was 5.38 years at diagnosis. The most common presenting symptoms were progressive coarsening of the face (82%), reccurent upper respiratory tract disorders (27%) and bone deformities (27%). All patients had mitral regurgitation, 27% had aortic regurgitation, 9% had tricuspid regurgitation and only one patient had pulmonary hypertension. Two patients, who could not be treated, had severe cardiac and obstructive type pulmonary disorders. Enzyme replacement therapy (galsulfase) has been performed in various durations since 2006. Conclusion: Early diagnosis of MPS VI is imperative due to the availability of galsulfase shown to slow the progression of the disease with a more significant impact on clinical outcomes when the the treatment is initiated early.en_US
dc.identifier.doi10.4274/jpr.47450
dc.identifier.endpage85en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue2en_US
dc.identifier.startpage82en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.47450
dc.identifier.urihttps://hdl.handle.net/11454/52741
dc.identifier.volume3en_US
dc.identifier.wosWOS:000406928300004en_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.subjectEnzyme replacement therapyen_US
dc.subjectmucopolysaccharidosisen_US
dc.subjectmaroteaux lamy syndromeen_US
dc.titleClinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)en_US
dc.typeArticleen_US

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