An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome

Clin Chim Acta. 1981 Apr 27;112(1):107-12. doi: 10.1016/0009-8981(81)90274-6.

Abstract

A more sensitive assay procedure has been developed for the enzyme iduronate 2-sulphate sulphatase which is deficient in the Hunter syndrome. The substrate is the same as previously described by Lim et al. [1], O-(alpha-L-idopyranosyluronic acid 2-sulphate)-(1leads to 4)-2,5 anhydro-D-[3H-1]mannitol 6-sulphate, but, after incubation, it is separated from the product by ion-exchange chromatography on a micro-column of Dowex 1 x 2 (Cl-1) instead of high voltage electrophoresis or ECTEOLA cellulose chromatography. Since the blank correction is then much smaller, a shorter incubation time can be used and conversion of the substrate reduced from approximately 50% down to levels where complications resulting from substrate depletion and product inhibition are minimal. Using whole serum the apparent Km for the substrate is 0.2 mmol/l. With an incubation time of 20 min, sera from heterozygotes exhibited approximately 35% of the normal levels of iduronate 2-sulphate sulphatase (0.11-0.61, mean 0.34 nmol.h-1.mg-1 protein for carriers; 0.24-2.35, mean 0.94 nmol.h-1.mg-1 protein for 37 normal females). Serum analyses can thus be used to supplement those on hair roots in the detection of carriers of the Hunter syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromatography, Ion Exchange / methods
  • Clinical Enzyme Tests
  • Genetic Carrier Screening
  • Hair / enzymology
  • Homozygote
  • Humans
  • Iduronate Sulfatase / blood*
  • Kinetics
  • Mucopolysaccharidosis II* / diagnosis*
  • Sulfatases / blood*

Substances

  • Sulfatases
  • Iduronate Sulfatase