European Journal of Pediatrics

, Volume 122, Issue 2, pp 103–105

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

  • Kiyoshi Omura
  • Shinobu Higami
  • Keiya Tada
Article

DOI: 10.1007/BF00466268

Cite this article as:
Omura, K., Higami, S. & Tada, K. Eur J Pediatr (1976) 122: 103. doi:10.1007/BF00466268

Abstract

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-iduronidaseHurler's syndrome

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