Mucopolysaccharidosis I (medical condition): Disorder of mucopolysaccharide metabolism in infants.
See also:
Mucopolysaccharidosis I:
»Introduction: Mucopolysaccharidosis I
»Symptoms of Mucopolysaccharidosis I
»Treatments for Mucopolysaccharidosis I
Mucopolysaccharidosis I: 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.
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Mucopolysaccharidosis I:
Mucopolysaccharidosis I (medical condition): See Mucopolysaccharidosis I (disease information).
»Introduction: Mucopolysaccharidosis I
»Symptoms of Mucopolysaccharidosis I
»Treatments for Mucopolysaccharidosis I
Mucopolysaccharidosis I: Mucopolysaccharidosis I is listed as a type of (or associated with) the following medical conditions in our database:
Mucopolysaccharidosis I(MPS I), which includes Hurler, Scheie, and Hurler/Scheie syndromes. Hurler syndrome-the most severe form of the mucopolysaccharidoses -occurs in infancy with symptoms such as clouding of the cornea and progressive physical and mental disability. Death usually occurs before age 10. Patients with Scheie syndrome experience milder symptoms and have normal intelligence, while those with Hurler/Scheie syndrome suffer from intermediate symptoms. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)
Mucopolysaccharidosis I(MPS I), which includes Hurler, Scheie, and Hurler/Scheie syndromes. Hurler syndrome-the most severe form of the mucopolysaccharidoses -occurs in infancy with symptoms such as clouding of the cornea and progressive physical and mental disability. Death usually occurs before age 10. Patients with Scheie syndrome experience milder symptoms and have normal intelligence, while those with Hurler/Scheie syndrome suffer from intermediate symptoms. (Source: excerpt from NINDS Mucopolysaccharidoses Information Page: NINDS)
These medical disease topics may be related to Mucopolysaccharidosis I:
Source - MeSH 2007
Source - MeSH 2007
Source - MeSH 2007
The following list attempts to classify Mucopolysaccharidosis I into categories where each line is subset of the next.
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