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Leukodystrophy, Metachromatic

National Organization for Rare Disorders, Inc.

Important

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.

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.

Resources

Kennedy Krieger Institute

707 North Broadway

Baltimore, MD 21205

Tel: (443)923-9200

Fax: (443)923-9405

Tel: (800)873-3377

TDD: (443)923-9400

Email: info@kennedykrieger.org

Internet: http://www.kennedykrieger.org



National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

204

Brookline, MA 02146-4227

USA

Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723

Email: info@ntsad.org

Internet: 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: office@ulf.org

Internet: http://www.ulf.org/



ELA - European Association Against Leukodystrophies

2, rue Mi-les-Vignes

54521

Laxou Cedex, 61024

France

Tel: 33383309334

Fax: 33383300068

Email: ela@ela-asso.com

Internet: http://www.ela-asso.com



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

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



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: info@huntershope.org

Internet: http://www.huntershope.org



Australian Leukodystrophy Support Group, Inc.

Nerve Centre

54 Railway Road

Blackburn, VIC 3130

Australia

Tel: 61395847070

Tel: 1800141400

Email: mail@alds.org.au

Internet: http://www.alds.org.au



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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Instituto de Errores Innatos del Metabolismo

Carrera 7 No 40 - 62

Bogota,

Colombia

Tel: 5713208320

Email: abarrera@javeriana.edu.co

Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



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: info@hideandseek.org

Internet: http://www.hideandseek.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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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