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    Alpha-Mannosidosis

    Important
    It is possible that the main title of the report Alpha-Mannosidosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • alpha-mannosidase B deficiency
    • lysosomal alpha-D-mannosidase deficiency
    • mannosidase, alpha B, lysosomal
    • mannosidosis
    • mannosidosis, alpha B, lysosomal

    Disorder Subdivisions

    • alpha-mannosidosis, type I
    • alpha-mannosidosis, type II
    • alpha-mannosidosis, type III

    General Discussion

    Summary
    Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.

    Introduction
    Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units. Enzymes within the lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). Low levels or inactivity of the alpha-mannosidase enzyme leads to the abnormal accumulation of compounds upstream in the metabolic pathway in the cells of affected individuals with unwanted consequences.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    Vaincre Les Maladies Lysosomales
    2 Ter Avenue
    Massy, 91300
    France
    Tel: 0169754030
    Fax: 0160111583
    Email: accueil@vml-asso.org
    Internet: http://www.vml-asso.org

    National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    204
    Brookline, MA 02146-4227
    USA
    Tel: (617)277-4463
    Fax: (617)277-0134
    Tel: (800)906-8723
    Email: info@ntsad.org
    Internet: http://www.NTSAD.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    National MPS Society, Inc.
    PO Box 14686
    Durham, NC 27709
    Tel: (919)806-0101
    Fax: (919)806-2055
    Tel: (877)677-1001
    Email: info@mpssociety.org
    Internet: http://www.mpssociety.org

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    Society for Mucopolysaccharide Diseases
    MPS House
    Repton Place
    White Lion Road
    Amersham
    Buckinghamshire, HP7 9LP
    United Kingdom
    Tel: 08453899901
    Fax: 08453899902
    Email: mps@mpssociety.co.uk
    Internet: http://www.mpssociety.co.uk

    Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
    PO Box 30034
    RPO Parkgate
    North Vancouver
    British Columbia, V7H 2Y8
    Canada
    Tel: 6049245130
    Fax: 6049245131
    Tel: 8006671846
    Email: info@mpssociety.ca
    Internet: http://www.mpssociety.ca

    International Advocate For Glycoprotein Storage Diseases
    3921 Country Club Drive
    Lakewood, CA 90712
    USA
    Tel: (410)628-9991
    Email: info@ismrd.org
    Internet: http://www.ismrd.org

    GOLD, Global Organisation For Lysosomal Diseases
    3 Albion Rd
    Chalfont St Giles
    Buckinghamshire, HP8 4EW
    United Kingdom
    Tel: 441494870708
    Email: enquiries@goldinfo.org
    Internet: http://www.goldinfo.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Hide & Seek Foundation for Lysosomal Disease Research
    6475 East Pacific Coast Highway Suite 466
    Long Beach, CA 90803
    Tel: (877)621-1122
    Fax: (866)215-8850
    Email: info@hideandseek.org
    Internet: http://www.hideandseek.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 10/1/2012
    Copyright 1987, 1988, 1990, 2004, 2006, 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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