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dc.contributor.authorShams, Sedighehpt_BR
dc.contributor.authorBarazandeh-Tehrani, Malihehpt_BR
dc.contributor.authorCivallero, Gabriel Eduardo Santiagopt_BR
dc.contributor.authorMinookherad, Kooshapt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorSetoodeh, Ariapt_BR
dc.contributor.authorHaghi-Ashtiani, Mohammad Taghipt_BR
dc.date.accessioned2019-05-31T02:45:39Zpt_BR
dc.date.issued2017pt_BR
dc.identifier.issn2251-6581pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/194807pt_BR
dc.description.abstractBackground: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The loss of GALNS activity leads to the impaired breakdown of glycosaminoglycans (GAGs) keratan sulfate and chondroitin- 6-sulfate. The accumulation of GAGs results in multiple organ damage. The accurate and early diagnosis of this disorder helps enhance the effectiveness of the treatment. The present study uses a pre-designed protocol for testing GALNS activity in the leukocytes of Iranian patients with MPS IV A and their parents and compares it with healthy controls. Methods: Patients with MPS IVA previously diagnosed through the measurement of enzyme activity or genetic analysis entered the study. Leukocytes were obtained from the heparinized blood of the participants. The GALNS activity was measured by a fluorometric method using 4-methylumbelliferyl-β-D-galactoside-6-sulfate (4MU-G6S) as the substrate and proper buffer solutions and calibrators. Results: The GALNS activity (nmol/17 h/mg protein) was reported as 0–7.4 in the MPSIV A patients, as 19.85–93.7 in their parents and as 38.4–164 in the healthy controls. Statistically significant differences were observed between the three groups in terms of enzyme activity. There were no significant differences in enzyme activity by age. The female subjects in both the patient and parents groups showed lower enzyme activity compared to the male subjects. Conclusion: The fluorometric method was validated for the measurement of GALNS activity in leukocyte samples and identifying Iranian patients with MPS IV A.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofJournal of diabetes & metabolic disorders. [Berlin]. vol. 16, no. 1 (2017), 37, 5 f.pt_BR
dc.rightsOpen Accessen
dc.subjectMPS IV Aen
dc.subjectMucopolissacaridosespt_BR
dc.subjectEnsaios enzimáticospt_BR
dc.subjectMucopolysaccharidosisen
dc.subjectMorquio Aen
dc.subjectEnzyme assayen
dc.subjectGALNS deficiencyen
dc.titleDiagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activitypt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001089632pt_BR
dc.type.originEstrangeiropt_BR


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