NORD's
Washington Office
 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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and the contents thereof are copyrighted by NORD. No part of the NORD web
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The information in NORD's Rare Disease Database is for educational purposes only. It
should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1997, 2002, 2007, 2008
NORD is very grateful to Claude Abdallah, MD, MSc, Department of Anesthesiology, Children’s National Medical Center, Assistant Professor of Anesthesiology and Pediatrics,
The George Washington University Medical Center, for assistance in the preparation of this report.
Synonyms of Fucosidosis
- Alpha-L-Fucosidase Deficiency
Disorder Subdivisions
- Fucosidosis Type 1
- Fucosidosis Type 2
General Discussion
Fucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down (metabolize) certain complex compounds (e.g., fucose-containing glycolipids or fucose-containing glycoproteins). Fucose is a type of the sugar required by the body to perform certain functions (essential sugar). The inability to breakdown fucose-containing compounds results in their accumulation in various tissues in the body. Fucosidosis results in progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease and coarsening of facial features. The symptoms and severity of fucosidosis are highly variable and the disorder represents a disease spectrum in which individuals with mild cases have been known to live into the third or fourth decades. Individuals with severe cases of fucosidosis can develop life-threatening complications early in childhood.
The disorder belongs to a group of diseases known as 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 certain fats and carbohydrates. Low levels or inactivity of the alpha-L-fucosidase enzyme leads to the abnormal accumulation of fucose-containing compounds in the tissues of individuals with fucosidosis.
Organizations related to Fucosidosis
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- GOLD, Global Organisation For Lysosomal Diseases
3 Albion Rd
Chalfont St Giles
Buckinghamshire None HP8 4EW
Phone #: +44- 14-94-870708
800 #: N/A
e-mail: enquiries@goldinfo.org
Home page: http://www.goldinfo.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- International Advocate For Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga CA 95070
Phone #: 410-628-9991
800 #: N/A
e-mail: info@ismrd.org
Home page: www.ismrd.org
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
- Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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