European Journal of Pediatrics

, Volume 122, Issue 2, pp 103–105 | Cite as

α-l-Iduronidase activity in leukocytes: Diagnosis of homozygotes and heterozygotes of the Hurler syndrome

  • Kiyoshi Omura
  • Shinobu Higami
  • Keiya Tada


The activity of α-l-iduronidase was determined in leukocytes from two patients with the Hurler syndrome, five obligatory heterozygotes, one patient with the Hunter syndrome, and ten normal individuals. It was found that the determination of α-l-iduronidase in leukocytes was a useful method for differential diagnosis between the Hurler and Hunter syndromes. Heterozygotes of the Hurler syndrome showed approximately 50% level of α-l-iduronidase activity in leukocytes as compared with that of normal individuals.

This suggests that the determination of α-l-iduronidase activity may be available for the carrier detection of the Hurler syndrome.

Key words

α-l-iduronidase Hurler's syndrome 


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  1. 1.
    Bach, G., Friedman, R., Weissmann, B., Neufeld, E. F.: The defect in the Hurler and Scheie syndromes: Deficiency of α-l-iduronidase. Proc. nat. Acad. Sci. (Wash.) 69, 2048 (1972)Google Scholar
  2. 2.
    Rosenberg, L. E., Downing, S.: Transport of neutral and dibasic amino acids by human leukocytes: Absence of defect in cystinuria. J. clin. Invest. 44, 1382 (1965)Google Scholar
  3. 3.
    Weissmann, B., Santiago, R.: α-l-iduronidase in lysosomal extracts. Biochem. biophys. Res. Commun. 46, 1430 (1972)Google Scholar
  4. 4.
    Friedman, R. B., Weissmann, B.: The phenyl-α- and β-l-idopyranosiduronic acids and some other aryl glycopyranosiduronic acid. Carbohyd. Res. 24, 123 (1972)Google Scholar
  5. 5.
    Lowry, O. H., Rosebrough, N. A., Farr, A. L., Randall, R. J.: Protein measurement with the folin phenol reagent. J. biol. Chem. 193, 265 (1951)Google Scholar
  6. 6.
    Frantantoni, J. C., Neufeld, E. F., Uhlendorf, B. S., Jacobson, C. B.: Intrauterine diagnosis of the Hurler and Hunter syndromes. New Engl. J. Med. 280, 686 (1969)Google Scholar
  7. 7.
    Hall, C. W., Neufeld, E. F.: α-l-iduronidase activity in cultured skin fibroblasts and amniotic fluid cell. Arch. Biochem. Biophys. 158, 817 (1973)Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Kiyoshi Omura
    • 1
  • Shinobu Higami
    • 1
  • Keiya Tada
    • 1
  1. 1.Department of PediatricsOsaka City University Medical SchoolOsaka

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