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

Adviye A Tolun; Carrie Graham; Qun Shi; Ramakrishna S Sista; Tong Wang; Allen E Eckhardt; Vamsee K Pamula; David S Millington; Deeksha S Bali

doi:10.1016/j.ymgme.2011.12.011

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

Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21.

Authors

Adviye A Tolun¹, Carrie Graham, Qun Shi, Ramakrishna S Sista, Tong Wang, Allen E Eckhardt, Vamsee K Pamula, David S Millington, Deeksha S Bali

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, Duke Medicine, Durham, NC 27713, USA.

PMID: 22227323
DOI: 10.1016/j.ymgme.2011.12.011

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.

Publication types

Research Support, Non-U.S. Gov't
Validation Study

MeSH terms

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

Substances

Iduronate Sulfatase