Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
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 activities in leucocytes and liver tissues were within the normal range or somewhat elevated.
D000293:Adolescent; D002648:Child; D006025:Glycosaminoglycans / Q000652:urine; D006026:Glycoside Hydrolases / Q000032:analysis*; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007068:Iduronidase / Q000032:analysis* / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology / Q000648:ultrastructure; D008297:Male; D008059:Mucopolysaccharidosis I / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000473:pathology; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging
D006025:Glycosaminoglycans; D006026:Glycoside Hydrolases; D007068:Iduronidase