Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

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dc.contributor.authorHein, L.
dc.contributor.authorMeikle, P.
dc.contributor.authorDean, C.
dc.contributor.authorBockmann, M.
dc.contributor.authorAuclair, D.
dc.contributor.authorHopwood, J.
dc.contributor.authorBrooks, D.
dc.date.issued2005
dc.descriptionCopyright © 2005 Federation of European Biochemical Societies Published by Elsevier B.V.
dc.description.abstract<h4>Background</h4>Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD), which is caused by a deficiency in the enzyme N-acetylgalactosamine 4-sulfatase (4-sulfatase). MPS VI is characterized by severe skeletal abnormalities, somatic tissue pathology and early death. Treatment possibilities include bone marrow transplantation (BMT) and enzyme replacement therapy (ERT; currently in phase III clinical trial). Early diagnosis of MPS VI will allow treatment before the onset of irreversible pathology.<h4>Methods</h4>Sensitive immune assays have been developed to detect 4-sulfatase protein and activity in normal control and MPS VI blood-spots.<h4>Results</h4>Dried blood-spots from MPS VI patients contained no detectable 4-sulfatase protein and activity, compared to 3.5-21 microg/L of 4-sulfatase protein and 291-1298 nmol/min/L of activity for normal human controls. In this evaluation study, the assay was sensitive and 100% specific, allowing reliable detection of individuals with MPS VI.<h4>Conclusions</h4>The assays reported here have the potential to detect MPS VI patients using dried blood-spots.
dc.description.statementofresponsibilityLeanne K. Hein, Peter J. Meikle, Caroline J. Dean, Michelle R. Bockmann, Dyane Auclair, John J. Hopwood and Doug A. Brooks
dc.description.urihttp://www.elsevier.com/wps/find/journaldescription.cws_home/506018/description#description
dc.identifier.citationClinica Chimica Acta, 2005; 353(1-2):67-74
dc.identifier.doi10.1016/j.cccn.2004.10.009
dc.identifier.issn0009-8981
dc.identifier.issn1873-3492
dc.identifier.orcidBockmann, M. [0000-0001-8050-0993]
dc.identifier.orcidBrooks, D. [0000-0001-9098-3626]
dc.identifier.urihttp://hdl.handle.net/2440/17336
dc.language.isoen
dc.publisherElsevier Science BV
dc.source.urihttps://doi.org/10.1016/j.cccn.2004.10.009
dc.subjectHumans
dc.subjectMucopolysaccharidosis IV
dc.subjectSulfatases
dc.subjectSensitivity and Specificity
dc.subjectCase-Control Studies
dc.titleDevelopment of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots
dc.typeJournal article
pubs.publication-statusPublished

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