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Leukodystrophy, Metachromatic

Important
It is possible that the main title of the report Leukodystrophy, Metachromaticis not the name you expected.

Synonyms

Late-Onset Metachromatic Leukodystrophy
ARSA
Arylsulfatase A Deficiency
Cerebroside Sulfatase Deficiency
Diffuse Cerebral Sclerosis
Greenfield Disease
Metachromatic Form of Diffuse Cerebral
Metachromatic Leukoencephalopathy
MLD
Sulfatide Lipidosis
Sulfatidosis

Disorder Subdivisions

Late Infantile Metachromatic Leukodystrophy
Juvenile Metachromatic Leukodystrophy
Adult 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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Resources

Kennedy Krieger Institute
707 North Broadway
Baltimore
MD
21205
Tel: (443)923-9200
Fax: (443)923-9405
800: (800)873-3377
TDD: (443)923-9400
webmaster@kennedykrieger.org
http://www.kennedykrieger.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton
MA
02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
800: (800)906-8723
info@ntsad.org
http://www.NTSAD.org

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore
IL
60178
Tel: (815)895-3211
Fax: (815)895-2432
800: (800)728-5483
office@ulf.org
http://www.ulf.org/

ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou
54520
France
Tel: 33 383 30 93 34
Fax: 33 383 30 00 68
ela@ela-asso.com
http://www.ela-asso.com

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Hunter's Hope Foundation, Inc.
PO Box 643
3859 N. Buffalo Street
Orchard Park
NY
14127
Tel: (716)667-1200
Fax: (716)667-1212
800: (877)984-4673
info@huntershope.org
http://www.huntershope.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Australian Leukodystrophy Support Group, Inc.
10 Mitchell Street
Mentone, Victoria
3194
Australia
Tel: 0011(03)9584 7070
Fax: 0011(03)9583 4379
leuko@vicnet.net.au
http://www.alds.org.au

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A
Tel: 50 1 3208320
Fax: 51 1 3384548
abarrera@javeriana.edu.co
http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood
CA
91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
info@hideandseek.org
http://www.hideandseek.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

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 orphan@rarediseases.org

Last Updated: 5/14/2008
Copyright 1986, 1987, 1988, 1994, 1995, 1997, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 14, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.