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Hurler´s Syndrome


Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler’s syndrome, Hurler-Scheie syndrome and Scheie’s syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.




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