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Mucopolysaccharidosis I

More information in Books or onNLM PubMed
Definition: 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.  DF: MPS I   
See Also Iduronidase; Mucopolysaccharidosis II
Other names Scheie's Syndrome; Pfaundler-Hurler Syndrome; Mucopolysaccharidosis V; Lipochondrodystrophy; Hurler-Scheie Syndrome; Hurler's Syndrome; Hurler Syndrome; Hurler Scheie Syndrome; Disease, Hurler's; Disease, Hurler; Deficiency, alpha-L-Iduronidase; Deficiencies, alpha-L-Iduronidase; alpha-L-Iduronidase Deficiency; Scheie Syndrome; Mucopolysaccharidosis IS; Mucopolysaccharidosis I-S; Mucopolysaccharidosis 5; Mucopolysaccharidosis 1; Hurler's Disease; Hurler Disease

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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