A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

J Inherit Metab Dis. 2001 Nov;24(6):675-80. doi: 10.1023/a:1012763026526.

Abstract

4-Methylumbelliferyl-alpha-iduronate 2-sulphate was synthesized and shown to be a specific substrate for the lysosomal iduronate-2-sulphate sulphatase (IDS). Fibroblasts (n = 17), leukocytes (n = 3) and plasmas (n = 9) from different MPS II patients showed < 5% of mean normal IDS activity. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-alpha-iduronate 2-sulphate requires the sequential action of IDS and alpha-iduronidase. A normal level of alpha-iduronidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-alpha-iduronide formed by IDS. A second incubation step in the presence of excess purified alpha-iduronidase is needed to avoid underestimation of the IDS activity.

MeSH terms

  • Fibroblasts / enzymology
  • Fluorometry
  • Humans
  • Hydrogen-Ion Concentration
  • Hymecromone / analogs & derivatives
  • Hymecromone / metabolism
  • Iduronate Sulfatase / blood
  • Iduronate Sulfatase / metabolism
  • Iduronic Acid / analogs & derivatives
  • Iduronic Acid / metabolism
  • Leukocytes / enzymology
  • Lysosomes / enzymology
  • Mucopolysaccharidosis II / diagnosis*
  • Mucopolysaccharidosis II / enzymology*
  • Substrate Specificity

Substances

  • 4-methylumbelliferyliduronate 2-sulfate
  • Iduronic Acid
  • Hymecromone
  • Iduronate Sulfatase