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It is possible that the main title of the report Leukodystrophy, Metachromatic 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.
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.
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brookline, MA 02146-4227
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Australian Leukodystrophy Support Group, Inc.
54 Railway Road
Blackburn, VIC 3130
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
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.
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Last Updated: 5/14/2008
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