Diseases & Conditions



Synonyms of Alpha-Mannosidosis
  • 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
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.

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 within cells. Enzymes within 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 these compounds in the cells of affected individuals with unwanted consequences.

Organizations related to Alpha-Mannosidosis
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: [email protected]
    Home page: http://www.CLIMB.org.uk
  • Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
    PO Box 64714
    Ontario Intl L3R OM9
    Phone #: 905--47-9-8701
    800 #: 800--66-7-1846
    e-mail: [email protected]
    Home page: http://www.mpssociety.ca
  • GOLD, Global Organisation For Lysosomal Diseases
    P.O. Box 609
    Chalfont St Giles None HP8 4WU
    Phone #: +44- 14-94-870708
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.goldinfo.org
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.hideandseek.org
  • International Society for Mannosidosis & Related Diseases, Inc.
    1030 Saxon Hill Drive
    Cockeysville MD 21030
    Phone #: 410-628-9991
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www/mannosidosis.org
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • NIH/National Digestive Diseases Information Clearinghouse
    2 Information Way
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: 800-891-5389
    e-mail: [email protected]
    Home page: http://www.niddk.nih.gov
  • National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
    PO Box 14686
    Durham NC 27709-4686
    Phone #: 919-806-0101
    800 #: --
    e-mail: [email protected]
    Home page: http://www.mpssociety.org
  • National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    Brighton MA 02135
    Phone #: 617-277-4463
    800 #: 800-906-8723
    e-mail: [email protected]
    Home page: http://www.NTSAD.org
  • Society for Mucopolysaccharide Diseases
    46 Woodside Road
    Buckinghamshire None HP6 6AJ
    Phone #: 004-401-494 434156
    800 #: --
    e-mail: [email protected]
    Home page: http://www.mpssociety.co.uk
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: [email protected]
    Home page: http://www.thearc.org/
  • Vaincre Les Maladies Lysosomales
    2 ter avenue de Fance
    Massy None 91300
    Phone #: 01 -69 -75 40 30
    800 #: --
    e-mail: [email protected]
    Home page: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html