National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Metachromatic Leukodystrophy is not the name you expected.
Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of metachromatic leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
Metachromatic leukodystrophy is inherited as an autosomal recessive trait. There are three forms of the disease that have similar symptoms. However, they are distinguished by the age of onset: infantile, juvenile, and adult forms of metachromatic leukodystrophy.
ELA - European Association Against Leukodystrophies
- 2, rue Mi-les-Vignes
- Laxou Cedex, 61024
- Tel: 33383309334
- Fax: 33383300068
- Email: firstname.lastname@example.org
- Website: http://www.ela-asso.com
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research
- 6475 East Pacific Coast Highway Suite 466
- Long Beach, CA 90803
- Tel: (877)621-1122
- Fax: (866)215-8850
- Email: email@example.com
- Website: http://www.hideandseek.org
Hunter's Hope Foundation, Inc.
- PO Box 643
- 6368 West Quaker Street
- Orchard Park, NY 14127
- Tel: (716)667-1200
- Fax: (716)667-1212
- Tel: (877)984-4673
- Email: firstname.lastname@example.org
- Website: http://www.huntershope.org
Instituto de Errores Innatos del Metabolismo
- Pontificia Universidad Javeriana Ed. Jesús Emilio
- Ramírez (53) Laboratorios 305A - 303
- Tel: 5713208320
- Email: email@example.com
- Website: http://www.javeriana.edu.co/ieim/programas_ieim.htm
Kennedy Krieger Institute
- 707 North Broadway
- Baltimore, MD 21205
- Tel: (443)923-9200
- Fax: (443)923-9405
- Tel: (800)873-3377
- Email: firstname.lastname@example.org
- Website: http://www.kennedykrieger.org
- Nerve Centre Building
- 54 Railway Road
- BLACKBURN, VIC 3130
- Tel: +61 3 9845 2831
- Tel: 1800 141 400
- Email: email@example.com
- Website: http://www.alds.org.au
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
National Tay-Sachs and Allied Diseases Association, Inc.
- 2001 Beacon Street
- Brookline, MA 02146-4227
- Tel: (617)277-4463
- Fax: (617)277-0134
- Tel: (800)906-8723
- Email: firstname.lastname@example.org
- Website: http://www.NTSAD.org
United Leukodystrophy Foundation
- 224 N. 2nd St.
- Suite 2
- DeKalb, IL 60115
- Tel: (815) 748-3211
- Fax: (815) 748-0844
- Tel: (800) 728-5483
- Email: email@example.com
- Website: http://www.ulf.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 5/14/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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