Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/17336
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Type: Journal article
Title: Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots
Author: Hein, L.
Meikle, P.
Dean, C.
Bockmann, M.
Auclair, D.
Hopwood, J.
Brooks, D.
Citation: Clinica Chimica Acta, 2005; 353(1-2):67-74
Publisher: Elsevier Science BV
Issue Date: 2005
ISSN: 0009-8981
1873-3492
Statement of
Responsibility: 
Leanne K. Hein, Peter J. Meikle, Caroline J. Dean, Michelle R. Bockmann, Dyane Auclair, John J. Hopwood and Doug A. Brooks
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.
Keywords: Humans; Mucopolysaccharidosis IV; Sulfatases; Sensitivity and Specificity; Case-Control Studies
Description: Copyright © 2005 Federation of European Biochemical Societies Published by Elsevier B.V.
RMID: 0020050151
DOI: 10.1016/j.cccn.2004.10.009
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/506018/description#description
Appears in Collections:Paediatrics publications

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