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  • Title: A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
    Author: Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS.
    Journal: Mol Genet Metab; 2012 Mar; 105(3):519-21. PubMed ID: 22227323.
    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.
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