A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Authors :: Tolun AA
Graham C
Shi Q
Sista RS
Wang T
Eckhardt AE
Pamula VK
Millington DS
Bali DS
Source :: Molecular genetics and metabolism [Mol Genet Metab] 2012 Mar; Vol. 105 (3), pp. 519-21. Date of Electronic Publication: 2011 Dec 21.
Publication Year :: 2012
Abstract: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported digital microfluidic method, from which it was adapted. Results show that this DBS assay is robust and reproducible using both technologies.<br /> (Copyright Â© 2012 Elsevier Inc. All rights reserved.)

Subjects :: Fluorometry methods
Humans
Iduronate Sulfatase genetics
Microfluidic Analytical Techniques
Mucopolysaccharidosis II blood
Mucopolysaccharidosis II enzymology
Dried Blood Spot Testing
Enzyme Assays methods
Iduronate Sulfatase blood
Mucopolysaccharidosis II diagnosis

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