Hein, L.Meikle, P.Dean, C.Bockmann, M.Auclair, D.Hopwood, J.Brooks, D.2006-12-032006-12-032005Clinica Chimica Acta, 2005; 353(1-2):67-740009-89811873-3492http://hdl.handle.net/2440/17336Copyright © 2005 Federation of European Biochemical Societies Published by Elsevier B.V.<h4>Background</h4>Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD), which is caused by a deficiency in the enzyme N-acetylgalactosamine 4-sulfatase (4-sulfatase). MPS VI is characterized by severe skeletal abnormalities, somatic tissue pathology and early death. Treatment possibilities include bone marrow transplantation (BMT) and enzyme replacement therapy (ERT; currently in phase III clinical trial). Early diagnosis of MPS VI will allow treatment before the onset of irreversible pathology.<h4>Methods</h4>Sensitive immune assays have been developed to detect 4-sulfatase protein and activity in normal control and MPS VI blood-spots.<h4>Results</h4>Dried blood-spots from MPS VI patients contained no detectable 4-sulfatase protein and activity, compared to 3.5-21 microg/L of 4-sulfatase protein and 291-1298 nmol/min/L of activity for normal human controls. In this evaluation study, the assay was sensitive and 100% specific, allowing reliable detection of individuals with MPS VI.<h4>Conclusions</h4>The assays reported here have the potential to detect MPS VI patients using dried blood-spots.enHumansMucopolysaccharidosis IVSulfatasesSensitivity and SpecificityCase-Control StudiesJournal article002005015110.1016/j.cccn.2004.10.0090002272066000072-s2.0-1344428211055263Bockmann, M. [0000-0001-8050-0993]Brooks, D. [0000-0001-9098-3626]