mucopolysaccharidosis type i
Medical Definition
Autosomal recessive 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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