Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

Leanne K. Hein, Peter J. Meikle, Caroline J. Dean, Michelle R. Bockmann, Dyane Auclair, John J. Hopwood, Doug A. Brooks

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)


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 μg/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.

Original languageEnglish
Pages (from-to)67-74
Number of pages8
JournalClinica Chimica Acta
Issue number1-2
Publication statusPublished or Issued - Mar 2005


  • Blood-spots
  • Immune assay
  • Lysosomal storage disorder
  • Maroteaux-Lamy syndrome
  • Mucopolysaccharidosis type VI
  • N-Acetylgalactosamine 4-sulfatase

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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