Atypical hurler syndrome without .ALPHA.-L-iduronidase deficiency.
1976; Tohoku University; Volume: 120; Issue: 2 Linguagem: Inglês
10.1620/tjem.120.113
ISSN1349-3329
AutoresTadao Orii, Kazuko Sukegawa, Ryoji Minami, Y. Matsuura, Satoshi Tsugawa, Kiyotaka Horino, Eizo MAEDA, Tooru Nakao, Hideo Kushida,
Tópico(s)Aldose Reductase and Taurine
ResumoThree 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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