Beta-D-mannosidosis

Common Name(s)

Beta-D-mannosidosis

Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease ({2:Bedilu et al., 2002}) The disorder was first described in goats ({10:Jones and Dawson, 1981}), who have a more severe neurodegenerative disorder than that seen in humans.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beta-D-mannosidosis" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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