Alpha-Mannosidosis

Important
It is possible that the main title of the report Alpha-Mannosidosisis not the name you expected.

Synonyms

Lysosomal Alpha-D-Mannosidase Deficiency
Alpha-Mannosidase B 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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy
91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
accueil@vml-asso.org
http://www.vml-asso.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton
MA
02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
800: (800)906-8723
info@ntsad.org
http://www.NTSAD.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham
NC
27709-4686
Tel: (919)806-0101
Fax: (919)806-2055
info@mpssociety.org
http://www.mpssociety.org

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda
MD
20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov

Society for Mucopolysaccharide Diseases
46 Woodside Road
Amersham
Buckinghamshire
HP6 6AJ
United Kingdom
Tel: 004401494 434156
Fax: 004401494 434252
mps@mpssociety.co.uk
http://www.mpssociety.co.uk

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario
Intl
L3R OM9
Canada
Tel: 905-479-8701
Fax: 905-479-8701
800: 800-667-1846
lori.mps@rogers.com
http://www.mpssociety.ca

International Society for Mannosidosis & Related Diseases, Inc.
1030 Saxon Hill Drive
Cockeysville
MD
21030
USA
Tel: (410)628-9991
pres@mannosidosis.org
http://www/mannosidosis.org

GOLD, Global Organisation For Lysosomal Diseases
P.O. Box 609
Chalfont St Giles
HP8 4WU
UK
Tel: +44 1494-870708
enquiries@goldinfo.org
http://www.goldinfo.org

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood
CA
91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
info@hideandseek.org
http://www.hideandseek.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

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: 1/29/2009
Copyright 1987, 1988, 1990, 2004, 2006, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: January 29, 2009

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