Brazilian reference values for MPS II screening in dried blood spots - A fluorimetric assay

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dc.contributor.authorRezende, Marina Mastelaro [UNIFESP]
dc.contributor.authorMueller, Karen Barbosa [UNIFESP]
dc.contributor.authorPereira, Vanessa Goncalves [UNIFESP]
dc.contributor.authorD'Almeida, Vania [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:37:48Z
dc.date.available2016-01-24T14:37:48Z
dc.date.issued2014-09-01
dc.description.abstractObjectives: Mucopolysaccharidosis II (MPS II), or Hunter Syndrome, is a lysosomal storage disorder that is caused by the deficiency or absence of iduronate-2-sulfatase (IDS) enzyme; in this disease, early diagnosis is essential to provide higher life expectancy for patients. This study validates a fluorimetric assay that is used to assess IDS enzyme activity using dried blood spot (DBS) samples and presents the reference interval for the Brazilian population.Design and methods: Venous blood sample was collected in heparin tubes for leukocyte extraction and DBS preparation. IDS activity in the leukocytes was analyzed, and the results were considered the gold standard reference for the categorization of volunteers as positive or negative controls (PC and NC, respectively). IDS activity in the DBS was analyzed using an adapted version of the leukocyte assay. Statistical analyses were performed using a ROC curve to determine cutoff values and using a parametric Student's t test to compare values between genders. To verify that the assay yielded consistent results, a Bland-Altman plot was prepared.Results: Leukocyte IDS activity values ranged between 2.71 and 17.36 nmol/mg protein/h in the NC group and between 0 and 0.11 nmol/mg protein/h in the PC group. Based on the DBS assay, activities ranged between 1.83 and 16.86 mol/L blood/h in the NC group and between 0.58 and 4.32 mol/L blood/h in the PC group.Conclusions: Reference values of IDS activity were determined in DBS with acceptable sensitivity and specificity. Therefore, the DBS assay described in this work may be a useful tool to screen MPS II patients in the Brazilian population. (C) 2014 the Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.en
dc.description.affiliationUniversidade Federal de São Paulo, Lab Erros Inatos Metab, Dept Psychobiol, BR-04024002 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Pediat, BR-04023062 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Lab Erros Inatos Metab, Dept Psychobiol, BR-04024002 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Pediat, BR-04023062 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipAssociacao Fundo de Incentivo a Psicofarmacologia/AFIP
dc.description.sponsorshipInstituto de Genetica e Erros Inatos do Metabolismo (IGEIM)
dc.format.extent1297-1299
dc.identifierhttp://dx.doi.org/10.1016/j.clinbiochem.2014.06.010
dc.identifier.citationClinical Biochemistry. Oxford: Pergamon-Elsevier B.V., v. 47, n. 13-14, p. 1297-1299, 2014.
dc.identifier.doi10.1016/j.clinbiochem.2014.06.010
dc.identifier.issn0009-9120
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38159
dc.identifier.wosWOS:000341329000023
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofClinical Biochemistry
dc.rightsAcesso restrito
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectMucopolysaccharidosis IIen
dc.subjectHunter Syndromeen
dc.subjectDried blood spoten
dc.subjectLeukocyteen
dc.subjectFluorimetric assayen
dc.titleBrazilian reference values for MPS II screening in dried blood spots - A fluorimetric assayen
dc.typeArtigo
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