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

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)....

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Bibliographic Details
Published in:Molecular genetics and metabolism 2012-03, Vol.105 (3), p.519-521
Main Authors: Tolun, Adviye A., Graham, Carrie, Shi, Qun, Sista, Ramakrishna S., Wang, Tong, Eckhardt, Allen E., Pamula, Vamsee K., Millington, David S., Bali, Deeksha S.
Format: Article
Language:English
Subjects:
Digital microfluidics
Dried blood spot
Dried Blood Spot Testing
Enzyme assay
Enzyme Assays - methods
Fluorometry - methods
Humans
Hunter syndrome
Iduronate Sulfatase - blood
Iduronate Sulfatase - genetics
Iduronate-2-sulfatase
Microfluidic Analytical Techniques
Microplate
Mucopolysaccharidosis II - blood
Mucopolysaccharidosis II - diagnosis
Mucopolysaccharidosis II - enzymology
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Summary: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. ► Single-step fluorometric DBS based diagnostic method to diagnose Hunter disease. ► Results compared well with recently reported digital microfluidic method. ► DBS fluorometric assay is robust, non-invasive and reproducible.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2011.12.011