Hurler's Syndromes Without α-L-Iduronidase Deficiency

Publisher Website
Google Scholar
Abstract
We read with great interest the article entitled "The Iduronidase-Deficient Mucopolysaccharidoses: Clinical and Roentgenographic Features" (Pediatrics 57:111, January 1976). Hurler's syndrome, Scheie's syndrome, and Hurler/Scheie compound are characterized by a profound deficiency of α-L-iduronidase. To our knowledge Hurler's syndrome without α-L-iduronidase deficiency has not been reported. We had an opportunity to study three boys in whom the clinical and laboratory findings were similar to those of Hurler's syndrome but which differed enzymatically in that α-L-iduronidase activity was not deficient in the leukocytes and liver tissues.1

This publication has 0 references indexed in Scilit: