Atypical hurler syndrome without .ALPHA.-L-iduronidase deficiency.

Abstract

Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without .alpha.-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. .alpha.-L-Iduronidase aactivities in leukocytes and liver tissues were within the normal range or somewhat elevated.