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Hurler's syndrome |
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Hurler's syndrome [′hər·lərz ‚sin‚drōm] (medicine) Mucopolysaccharoidosis I, a hereditary condition transmitted as an autosomal recessive in which there is excessive chondroitin sulfate B and heparin sulfate in the urine and tissues, and which is marked clinically by a complex of symptoms including grotesque skeletal and facial deformities, skin and cardiac changes, clouding of the cornea, and mental deficiency. Also known as gargoylism; lipochondrodystrophy. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions. LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome. |
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