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Mucopolysaccharidosis I (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.
Also Known As:
Hurler Syndrome; Scheie Syndrome; Hurler Scheie Syndrome; Hurler's Syndrome; Scheie's Syndrome; Gargoylism, Hurler Syndrome; Hurler Disease; Hurler's Disease; Mucopolysaccharidosis 1; Mucopolysaccharidosis 5; Mucopolysaccharidosis I-S; Mucopolysaccharidosis IS; alpha-L-Iduronidase Deficiency; Deficiencies, alpha-L-Iduronidase; Deficiency, alpha-L-Iduronidase; Disease, Hurler; Disease, Hurler's; Hurler Syndrome Gargoylism; Hurlers Disease; Hurlers Syndrome; Lipochondrodystrophies; Mucopolysaccharidosis I S; Pfaundler Hurler Syndrome; Syndrome, Hurler's; Syndrome, Hurler-Scheie; Syndrome, Pfaundler-Hurler; Syndrome, Scheie; Syndrome, Scheie's; Syndromes, Scheie; alpha L Iduronidase Deficiency; alpha-L-Iduronidase Deficiencies; Hurler-Scheie Syndrome; Lipochondrodystrophy; Mucopolysaccharidosis V; Pfaundler-Hurler Syndrome
Networked: 440 relevant articles (32 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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)

Experts

1. Ponder, Katherine P: 15 articles (12/2014 - 07/2006)
2. Tolar, Jakub: 11 articles (03/2015 - 01/2006)
3. Hopwood, John J: 10 articles (01/2006 - 09/2002)
4. Orchard, Paul J: 9 articles (09/2015 - 04/2006)
5. Giugliani, Roberto: 9 articles (05/2013 - 01/2002)
6. Kakkis, Emil D: 9 articles (01/2013 - 05/2002)
7. Brooks, Doug A: 8 articles (01/2006 - 09/2002)
8. Haskins, Mark E: 7 articles (12/2014 - 07/2006)
9. Dickson, Patricia I: 7 articles (01/2013 - 10/2008)
10. Ma, Xiucui: 7 articles (02/2010 - 07/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidosis I:
1. Iduronidase (alpha-L-Iduronidase)IBA
2. Growth Hormone (Somatotropin)IBA
3. EnzymesIBA
4. Messenger RNA (mRNA)IBA
5. 4-trifluoromethylumbelliferyl iduronideIBA
6. GlycosaminoglycansIBA
7. Proteins (Proteins, Gene)IBA
08/20/1996 - "Results from this study in a canine model of mucopolysaccharidosis I underscore the fact that immunologic reactions to cells producing desirable, normal, but foreign, proteins may be as much an impediment to gene therapy as reactions to the viral vectors used to introduce the foreign gene."
11/01/2011 - "We tested the in vitro properties of fluorescent-labeled recombinant human alpha-l-iduronidase (rhIDU, the enzyme deficient in Hurler syndrome) and compared labeled to unlabeled proteins. "
07/01/2008 - "Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice."
11/01/2008 - "A variety of HIRMAb fusion proteins were engineered aiming at the development of therapeutics for the central nervous system (CNS), i.e., stroke and Parkinson's disease, as in the case of HIRMAb-BDNF and HIRMAb-GDNF, respectively, HIRMAb-IDUA for the treatment of Hurler's disease, HIRMAb-A beta single chain antibody for passive immunotherapy of Alzheimer's disease, and HIRMAb-avidin as delivery system for biotinylated drugs, like siRNAs. "
08/01/1999 - "The brains of patients with Hurler's syndrome (MPS I: n = 5) and Sanfilippo's syndrome (MPS III; n = 4) as well as from caprine MPS IIID and murine MPS VII models were evaluated by thioflavine-S staining and by immunohistochemistry using antibodies directed against heparan sulfate proteoglycans, hyperphosphorylated tau, amyloid-beta peptide precursor proteins (APP), and amyloid-beta peptides (A beta [1-40], and A beta [1-42]). "
8. Terminator Codon (Termination Codon)IBA
9. Mannose (D-Mannose)IBA
10. Ascorbic Acid (Vitamin C)FDA LinkGeneric

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Enzyme Replacement Therapy
3. Stem Cell Transplantation
4. Transplantation (Transplant Recipients)
5. Transplants (Transplant)