Diseases & Conditions


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Leukodystrophy, Krabbe's


Synonyms of Leukodystrophy, Krabbe's
  • Galactocerebrosidase (GALC) Deficiency
  • Galactocerebroside Beta-Galactosidase Deficiency
  • Galactosylceramidase Deficiency
  • Galactosylceramide Lipidosis
  • Globoid Cell Leukoencephalopathy
  • Krabbe's Disease
  • Leukodystrophy, Globoid Cell
  • Sphingolipidosis, Krabbe's Type

Disorder Subdivisions



    General Discussion
    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial muscles (pseudobulbar palsy). Krabbe?s Leukodystrophy is inherited as an autosomal recessive trait.
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    Organizations related to Leukodystrophy, Krabbe's
    • 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
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • 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
    • 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/
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.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