Atypical Hurler Syndrome without α-L-Iduronidase Deficiency

抄録

Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without α-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. α-L-Iduronidase activities in leucocytes and liver tissues were within the normal range or somewhat elevated.