National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Metachromatic Leukodystrophy 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.
- Arylsulfatase A Deficiency
- Cerebroside Sulfatase Deficiency
- Diffuse Cerebral Sclerosis
- Greenfield Disease
- Late-Onset Metachromatic Leukodystrophy
- Metachromatic Form of Diffuse Cerebral
- Metachromatic Leukoencephalopathy
- Sulfatide Lipidosis
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.
Australian Leukodystrophy Support Group, Inc.
- P O Box 2550
- Mount Waverley, VIC 3149
- Tel: 0418-755-994
- Tel: 1-800-141-400
- Email: firstname.lastname@example.org
- Website: http://www.alds.org.au
ELA - European Association Against Leukodystrophies
- 2, rue Mi-les-Vignes
- Laxou Cedex, 61024
- Tel: 33383309334
- Fax: 33383300068
- Email: email@example.com
- 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: firstname.lastname@example.org
- 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: email@example.com
- Website: http://www.huntershope.org
Instituto de Errores Innatos del Metabolismo
- Carrera 7 No 40 - 62
- Tel: 5713208320
- Email: firstname.lastname@example.org
- 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: email@example.com
- Website: http://www.kennedykrieger.org
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
- 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). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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 firstname.lastname@example.org
Last Updated: 1/18/1970
Copyright 2003 National Organization for Rare Disorders, Inc.
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