Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: leuko@vicnet.net.au
    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: ela@ela-asso.com
    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: info@hideandseek.org
    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: info@huntershope.org
    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: 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: webmaster@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)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: braininfo@ninds.nih.gov
    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: 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/



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