Morquio syndrome A

Common Name(s)

Morquio syndrome A, Mucopolysaccharidosis, MPS-IV-A

Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life ({32:Montano et al., 2008}). {31:McKusick (1972)} noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}). {34:Nelson et al. (1988)} proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Morquio syndrome A" 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.

Last Updated: 22 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Morquio syndrome A" 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

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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 "Morquio syndrome A" 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 "Morquio syndrome A" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Morquio Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Morquio Disease

 

Last Updated: 7 Oct 2014

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Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
 

Status: Not yet recruiting

Condition Summary: Mucopolysaccharidosis IV; Morquio A Disease

 

Last Updated: 29 May 2014

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Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)
 

Status: Recruiting

Condition Summary: Morquio A Syndrome; Mucopolysaccharidosis IV A

 

Last Updated: 5 Aug 2014

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