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"Resources" on this report.
Copyright 1986, 1987, 1988, 1994, 1995, 1997, 2003
Synonyms of Leukodystrophy, Metachromatic
- ARSA
- Arylsulfatase A Deficiency
- Cerebroside Sulfatase Deficiency
- Diffuse Cerebral Sclerosis
- Greenfield Disease
- Late-Onset Metachromatic Leukodystrophy
- Metachromatic Form of Diffuse Cerebral
- Metachromatic Leukoencephalopathy
- MLD
- Sulfatide Lipidosis
- Sulfatidosis
Disorder Subdivisions
- Adult Metachromatic Leukodystrophy
- Juvenile Metachromatic Leukodystrophy
- Late Infantile Metachromatic Leukodystrophy
General Discussion
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.
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Organizations related to Leukodystrophy, Metachromatic
- Australian Leukodystrophy Support Group, Inc.
10 Mitchell Street
Mentone, Victoria None 3194
Phone #: 001-1(0-3)9584 7070
800 #: N/A
e-mail: leuko@vicnet.net.au
Home page: http://www.alds.org.au
- ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
54521
Laxou Cedex None 61024
Phone #: 33 -383- 30 93 34
800 #: --
e-mail: ela@ela-asso.com
Home page: http://www.ela-asso.com
- 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
- Hunter's Hope Foundation, Inc.
PO Box 643
3859 N. Buffalo Street
Orchard Park NY 14127
Phone #: 716-667-1200
800 #: 877-984-4673
e-mail: info@huntershope.org
Home page: http://www.huntershope.org
- Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota None None
Phone #: (57-1) -3208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co
- Kennedy Krieger Institute
707 North Broadway
Baltimore MD 21205
Phone #: 443-923-9200
800 #: 800-873-3377
e-mail: info@kennedykrieger.org
Home page: http://www.kennedykrieger.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- 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
- 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
- United Leukodystrophy Foundation
2304 Highland Drive
Sycamore IL 60178
Phone #: 815-895-3211
800 #: 800-728-5483
e-mail: office@ulf.org
Home page: http://www.ulf.org/
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