Patient (condition)
Aliases:
Topic aliases are alternate phrasings for a particular topic.
alpha-L-Iduronidase Deficiency
Gargoylism, Hurler Syndrome
Hurler Disease
Hurler's Disease
Hurler's Syndrome
Hurler-Scheie Syndrome
Lipochondrodystrophy
Scheie Syndrome
Scheie's Syndrome
Pfaundler-Hurler Syndrome
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase ( 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. Hunter syndrome ( MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
www.nlm.nih.gov/cgi/mesh/...
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Aug 14, 2012