Article

European Journal of Pediatrics

, Volume 122, Issue 2, pp 103-105

First online:

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

  • Kiyoshi OmuraAffiliated withDepartment of Pediatrics, Osaka City University Medical School
  • , Shinobu HigamiAffiliated withDepartment of Pediatrics, Osaka City University Medical School
  • , Keiya TadaAffiliated withDepartment of Pediatrics, Osaka City University Medical School

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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-iduronidase Hurler's syndrome