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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 syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Also Known As:
Hurler Syndrome; Scheie Syndrome; Hurler Scheie Syndrome; Hurler's Syndrome; Scheie's Syndrome; Gargoylism; Gargoylism, Hurler Syndrome; Hurler Disease; Hurler's Disease; Mucopolysaccharidosis 1; Mucopolysaccharidosis 5; Mucopolysaccharidosis I-S; Mucopolysaccharidosis Type I; Mucopolysaccharidosis Type Ih; Mucopolysaccharidosis Type Ih S; Mucopolysaccharidosis Type Is; alpha-L-Iduronidase Deficiency; Disease, Hurler's; Gargoylisms; Hurler Syndrome Gargoylism; Lipochondrodystrophies; Mucopolysaccharidosis I S; Mucopolysaccharidosis Is; Mucopolysaccharidosis Type Ihs; Syndrome, Hurler's; Syndrome, Scheie's; Type Ih, Mucopolysaccharidosis; Type Ihs, Mucopolysaccharidosis; alpha L Iduronidase Deficiency; alpha-L-Iduronidase Deficiencies; Hurler-Scheie Syndrome; Lipochondrodystrophy; Mucopolysaccharidosis V; Pfaundler-Hurler Syndrome
Networked: 957 relevant articles (61 outcomes, 57 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mucopolysaccharidosis I (Hurler Syndrome)
2. Gaucher Disease (Gaucher's Disease)
3. Fabry Disease (Fabry's Disease)
4. Lysosomal Storage Diseases (Lysosomal Storage Disease)
5. Disease Progression

Experts

1. Giugliani, Roberto: 39 articles (01/2022 - 01/2002)
2. Matte, Ursula: 29 articles (01/2022 - 05/2010)
3. Orchard, Paul J: 26 articles (03/2021 - 04/2006)
4. Baldo, Guilherme: 25 articles (01/2022 - 05/2010)
5. Whitley, Chester B: 24 articles (03/2021 - 06/2004)
6. Tolar, Jakub: 22 articles (11/2020 - 01/2006)
7. Dickson, Patricia I: 21 articles (11/2020 - 10/2008)
8. D'Almeida, Vânia: 16 articles (02/2021 - 01/2008)
9. Wijburg, Frits A: 16 articles (10/2019 - 05/2010)
10. Ponder, Katherine P: 15 articles (12/2014 - 07/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidosis I:
1. Iduronidase (alpha-L-Iduronidase)IBA
2. EnzymesIBA
3. GlycosaminoglycansIBA
4. Proteins (Proteins, Gene)FDA Link
5. Biomarkers (Surrogate Marker)IBA
6. Growth Hormone (Somatotropin)IBA
7. LipidsIBA
8. Messenger RNA (mRNA)IBA
9. 4-trifluoromethylumbelliferyl iduronideIBA
10. NanocapsulesIBA

Therapies and Procedures

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