Impo
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
- 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
General Discussion
Alpha-mannosidosis is one of a group of very rare, inherited, lysosomal storage diseases involving the breakdown (catabolism) of complex molecules composed of a sugar attached to a protein (glycoprotein). These disorders are caused by a deficiency of an enzyme essential to the process of breaking down the complex molecule. Because of this deficiency, substances accumulate in the cell with unwanted consequences. The enzyme that is lacking is known as alpha-D-mannosidase, and this disorder is one of approximately 50 lysosomal storage diseases.
The disorder is inherited as an autosomal recessive trait. The medical community has arranged the symptoms of alpha-mannosidosis into three types: Type 1, the most mild form, generally appears after the age of 10 years; Type 2, the moderate form, may be accompanied by skeletal and muscular defects, and is usually slow to progress; Type 3, the most severe form, usually becomes apparent shortly after birth and involves the central nervous system. Progression of Type 3 may be very fast.
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
Email: info@climb.org.uk
Internet: 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
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org
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
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov
International Society for Mannosidosis & Related Diseases, Inc.
1030 Saxon Hill Drive
Cockeysville, MD 21030
USA
Tel: 4106289991
Email: pres@mannosidosis.org
Internet: http://www/mannosidosis.org
