Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/23238
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Type: Journal article
Title: Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
Author: Dean, C.
Bockmann, M.
Hopwood, J.
Brooks, D.
Meikle, P.
Citation: Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, 2006; 52(4):643-649
Publisher: Amer Assoc Clinical Chemistry
Issue Date: 2006
ISSN: 0009-9147
1530-8561
Statement of
Responsibility: 
Caroline J. Dean, Michelle R. Bockmann, John J. Hopwood, Doug A. Brooks and Peter J. Meikle
Abstract: <h4>Background</h4>Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder related to a deficiency in the enzyme iduronate-2-sulfatase (IDS). Clinical trials of enzyme replacement therapy are in progress, but effective treatment will require screening assays to enable early detection and diagnosis of MPS II. Our study evaluated the diagnostic accuracy of IDS protein and enzyme activity measurements in dried blood spots and plasma.<h4>Methods</h4>We collected dried-blood-spot and plasma samples from unaffected control individuals and from MPS II patients. We measured IDS protein concentration with a 2-step time-delayed dissociation-enhanced lanthanide fluorescence immunoassay. To measure enzyme activity, we immobilized anti-IDS antibody on microtiter plates to capture the enzyme and measured its activity with the fluorogenic substrate 4-methylumbelliferyl sulfate.<h4>Results</h4>Dried-blood-spot samples from MPS II patients showed an almost total absence of IDS activity (0-0.075 micromol x h(-1) x L(-1)) compared with control blood spots (0.5-4.7 micromol x h(-1) x L(-1)) and control plasma (0.17-8.1 micromol x h(-1) x L(-1)). A dried-blood-spot sample from only 1 of 12 MPS II patients had detectable concentrations of IDS protein (24.8 microg/L), but no IDS protein was detected in plasma from MPS II patients. Ranges for IDS protein in control samples were 25.8-153 microg/L for blood spots and 22.8-349.4 microg/L for plasma.<h4>Conclusion</h4>Measurement of the IDS protein concentration and enzyme activity (as measured by a simple fluorogenic assay with an immune capture technique) enables identification of the majority of MPS II patient samples from both dried blood spots and plasma samples.
Keywords: CHO Cells
Plasma
Animals
Humans
Cricetulus
Mucopolysaccharidosis II
Hymecromone
Iduronate Sulfatase
Recombinant Proteins
Indicators and Reagents
Immunoassay
Blood Specimen Collection
Calibration
Fluorometry
Adolescent
Adult
Middle Aged
Child
Child, Preschool
Infant
Cricetinae
Clinical Enzyme Tests
Description: Copyright © 2006 American Association for Clinical Chemistry, Inc.
DOI: 10.1373/clinchem.2005.061838
Appears in Collections:Aurora harvest 6
Paediatrics publications

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