The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Atypical Hurler Syndrome without α-L-Iduronidase Deficiency
TADAO ORII, KAZUKO SUKEGAWA, RYOJI MINAMI, YOSHIKI MATSUURA, SATOSHI TSUGAWA, KIYOTAKA HORINO, EIZO MAEDA, TOORU NAKAO, HIDEO KUSHIDA
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Keywords: Hurler syndrome, α-L-iduronidase, mucopo-lysaccharidosis
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1976 Volume 120 Issue 2 Pages 113-123

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Abstract

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.

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