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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.


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Hurler's syndrome is the severe form of MPS type1, or mucopolysaccharidoses.
The tot suffers from Hurler's Syndrome, which means he was born with a missing enzyme.
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.
 
 
 
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