Alpha-Mannosidosis / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Alpha-Mannosidosis

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