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Mucopolysaccharidosis I (Hurler Syndrome) Summary

Description: 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.

Also Known As: Hurler Syndrome; Scheie Syndrome; Hurler Scheie Syndrome; Hurler's Syndrome; Scheie's Syndrome Show All >>

Networked: 440 relevant articles (32 outcomes, 26 trials/studies) for this Disease

Key Drugs and Agents for Mucopolysaccharidosis I

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Iduronidase (alpha-L-Iduronidase) : 7 outcomes 9 studies in 157 results : IBA
  2. Growth Hormone (Somatotropin) : 1 outcome 1 study in 2 results : IBA
  3. Enzymes : 1 outcome in 14 results : IBA
  4. Messenger RNA (mRNA) : 1 outcome in 2 results : IBA
  5. 4-trifluoromethylumbelliferyl iduronide : 1 outcome in 2 results : IBA
  6. Glycosaminoglycans : 1 study in 79 results : IBA
  7. Proteins (Proteins, Gene) : 1 study in 5 results : IBA
  8. Terminator Codon (Termination Codon) : 1 study in 2 results : IBA
  9. Mannose (D-Mannose) : 1 study in 2 results : IBA
  10. Ascorbic Acid (Vitamin C) : 1 study in 2 results : FDA 18 Generic
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Diseases Related to Mucopolysaccharidosis I

  1. Mucopolysaccharidosis I (Hurler Syndrome)
  2. Lysosomal Storage Diseases (Lysosomal Storage Disease)
  3. Mucopolysaccharidoses
  4. Mucopolysaccharidosis II (Hunter Syndrome)
  5. Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
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Key Therapies for Mucopolysaccharidosis I

Efficacy Chart >>
  1. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 9 outcomes in 45 results
  2. Enzyme Replacement Therapy : 8 outcomes 4 studies in 56 results
  3. Stem Cell Transplantation : 3 outcomes 1 study in 19 results
  4. Transplantation (Transplant Recipients) : 2 outcomes 2 studies in 17 results
  5. Transplants (Transplant) : 2 outcomes 1 study in 35 results
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