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

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

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

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
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, 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: 8/16/2006
Copyright 1987, 1988, 1990, 2004, 2006 National Organization for Rare Disorders, Inc.

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