Leukodystrophy, Metachromatic / Disease

Diseases & Conditions

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Leukodystrophy, Metachromatic

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: [email protected]
Home page: http://www.alds.org.au
ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou None 54520
Phone #: 33 -383- 30 93 34
800 #: --
e-mail: [email protected]
Home page: http://www.ela-asso.com
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
North Hollywood CA 91602-2828
Phone #: 818-762-8621
800 #: N/A
e-mail: [email protected]
Home page: http://www.hideandseek.org
Hunter's Hope Foundation, Inc.
PO Box 643
Orchard Park NY 14127
Phone #: 716-667-1200
800 #: 877-984-4673
e-mail: [email protected]
Home page: http://www.huntershope.org
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
S.A. Edificio 53 Lab. 305A None None
Phone #: 50 -1 3-208320
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.madisonsfoundation.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: [email protected]
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: [email protected]
Home page: http://www.ulf.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html