iduronidase deficiency disease

[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. ( CSP )]

UMLS (CSP) C0023786

Disease or Syndrome

Relation/PAR: Collagen Diseases
Mucopolysaccharidoses
enzyme deficiency

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