Alpha Mannosidosis

Common Name(s)

Alpha Mannosidosis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha Mannosidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Alpha Mannosidosis" returned 25 free, full-text research articles on human participants. First 3 results:

Natural history of alpha mannosidosis a longitudinal study.
 

Author(s): Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski, Paul Saftig, Jens Fogh, Dag Malm

Journal:

 

Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and ...

Last Updated: 26 Jun 2013

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Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.
 

Author(s): Derk Frederik Matthaus Avenarius, John-Sigurd Svendsen, Dag Malm

Journal: J. Inherit. Metab. Dis.. 2011 Oct;34(5):1023-7.

 

In Alpha-mannosidosis (MIM 248500) the patients accumulate mainly unbranched oligosaccharide chains in the lysosomes in all body tissues, including the brain. With ensuing therapeutic modalities in man (BMT and ERT) non-invasive methods of monitoring the effect of treatment are needed. ...

Last Updated: 15 Sep 2011

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Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
 

Author(s): Elina Kuokkanen, Hilde Monica Frostad Riise Stensland, Wesley Smith, Elisabeth Kjeldsen Buvang, Lam Van Nguyen, Øivind Nilssen, Pirkko Heikinheimo

Journal: Hum. Mol. Genet.. 2011 Jul;20(13):2651-61.

 

α-Mannosidosis is a lysosomal storage disorder caused by mutations in the MAN2B1 gene. The clinical presentation of α-mannosidosis is variable, but typically includes mental retardation, skeletal abnormalities and immune deficiency. In order to understand the molecular aetiology ...

Last Updated: 9 Jun 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alpha Mannosidosis" returned 2 free, full-text review articles on human participants. First 3 results:

Alpha-mannosidosis.
 

Author(s): Dag Malm, Øivind Nilssen

Journal:

 

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, ...

Last Updated: 13 Aug 2008

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Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 

Author(s): J C Michalski, A Klein

Journal: Biochim. Biophys. Acta. 1999 Oct;1455(2-3):69-84.

 

Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, ...

Last Updated: 8 Dec 1999

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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

Clinical Biomarkers in Alpha-mannosidosis
 

Status: Recruiting

Condition Summary: Alpha-Mannosidosis

 

Last Updated: 4 Oct 2014

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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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MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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