title: Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
abstract: BACKGROUND
  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.
  
  
  METHODS
  Sensitive immune assays have been developed to detect 4-sulfatase protein and activity in normal control and MPS VI blood-spots.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The assays reported here have the potential to detect MPS VI patients using dried blood-spots.
authors.affiliation: Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
authors.forename: Leanne K
authors.initials: LK
authors.lastname: Hein
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Meikle
authors.forename: Caroline J
authors.initials: CJ
authors.lastname: Dean
authors.forename: Michelle R
authors.initials: MR
authors.lastname: Bockmann
authors.forename: Dyane
authors.initials: D
authors.lastname: Auclair
authors.forename: John J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: Doug A
authors.initials: DA
authors.lastname: Brooks
mesh_terms: D016022:Case-Control Studies; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D012680:Sensitivity and Specificity; D013429:Sulfatases / Q000097:blood
chemical_list: D013429:Sulfatases