Mucopolysaccharidosis, MPS-I-H/S

Common Name(s)

Mucopolysaccharidosis, MPS-I-H/S

The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; {607014}), Scheie (MPS IS; {607016}), and Hurler-Scheie (MPS IH/S) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression ({10:McKusick, 1972}). {13:Roubicek et al. (1985)} presented 5 patients with alpha-L-iduronidase deficiency and a phenotype atypical for both Hurler and Scheie syndromes. They felt that the genetic compound explanation was acceptable for some cases, but that others must represent different mutations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis, MPS-I-H/S" for support, advocacy or research.

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis, MPS-I-H/S" for support, advocacy or research.

Logo
National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mucopolysaccharidosis, MPS-I-H/S" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mucopolysaccharidosis, MPS-I-H/S" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.