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). 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.
Division of Medical Genetics, Department of Pediatrics, Duke Medicine, Durham, NC 27713, USA.
Adviye A
AA
Tolun
Carrie
C
Graham
Qun
Q
Shi
Ramakrishna S
RS
Sista
Tong
T
Wang
Allen E
AE
Eckhardt
Vamsee K
VK
Pamula
David S
DS
Millington
Deeksha S
DS
Bali
D059788:Dried Blood Spot Testing; D057075:Enzyme Assays / Q000379:methods*; D005470:Fluorometry / Q000379:methods; D006801:Humans; D007066:Iduronate Sulfatase / Q000097:blood* / Q000235:genetics; D046210:Microfluidic Analytical Techniques; D016532:Mucopolysaccharidosis II / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology
D007066:Iduronate Sulfatase