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Mucopolysaccharidosis I
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.

Synonym(s): Hurler's Syndrome / Hurler-Scheie Syndrome / Lipochondrodystrophy / Mucopolysaccharidosis V / Pfaundler-Hurler Syndrome / Scheie's Syndrome / Gargoylism, Hurler Syndrome / Hurler Disease / Hurler's Disease / MPS I H / MPS I H-S / MPS I S / MPS I-S / Mucopolysaccharidosis 1 / Mucopolysaccharidosis 5 / Mucopolysaccharidosis I-S / Mucopolysaccharidosis IS / Scheie Syndrome / Disease, Hurler / Disease, Hurler's / Hurler Scheie Syndrome / Hurler Syndrome / Hurler Syndrome Gargoylism / Hurlers Disease / Hurlers Syndrome / Lipochondrodystrophies / MPS I H S / Mucopolysaccharidosis I S / Pfaundler Hurler Syndrome / Syndrome, Hurler's / Syndrome, Hurler-Scheie / Syndrome, Pfaundler-Hurler / Syndrome, Scheie / Syndrome, Scheie's / Syndromes, Scheie
See also:
Mucopolysaccharidosis II  Iduronidase   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Mucopolysaccharidosis I"
  English (11)  French (5)  German (1)        

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the robot description of the site Mucopolysaccharidosis I Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com 2
view the HON description of the site HONcode - Hurler syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov 6
view the robot description of the site Mucopolysaccharidoses Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 4
view the HON description of the site HONcode - Orphanet: Mucopolysaccharidosis type 1www.orpha.net 3
view the robot description of the site Orphanet Journal of Rare Diseases | Full text | The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK....www.ojrd.com  
view the robot description of the site Whonamedit - Hurler-Scheie syndromewww.whonamedit.com 2
view the robot description of the site Hurler syndromemedgen.genetics.utah.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org 2
view the robot description of the site BBC - Health: Mucopolysaccharide diseases www.bbc.co.uk  
 
 

See also: - Mucopolysaccharidosis II - Iduronidase

Broader term(s): - Mucopolysaccharidoses - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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  Medical image(s) for "Mucopolysaccharidosis I"
click below to enlargeA boy with a mutation in a-L-iduronidase, which causes Hurler syndrome
medgen.genetics.utah.edu
Copyright © Medical Genetics A boy with a mutation in a-L-iduronidase, which causes Hurler syndrome
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  Medical News for "Mucopolysaccharidosis I"
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  Scientific articles from MEDLINE for "Mucopolysaccharidosis I"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Mucopolysaccharidosis I"
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See also: - Mucopolysaccharidosis II

Broader term(s): - Mucopolysaccharidoses - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Mucopolysaccharidoses 
                      Carbohydrate Metabolism, Inborn Errors
                          Mucopolysaccharidoses 
      Diseases
          Skin and Connective Tissue Diseases
              Connective Tissue Diseases
                  Mucinoses
                      Mucopolysaccharidoses 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Mucopolysaccharidoses 
                      Carbohydrate Metabolism, Inborn Errors
                          Mucopolysaccharidoses 

MeSH 2010 © U.S. National Library of Medicine®.

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