Leukodystrophy, Krabbe's

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Leukodystrophy, Krabbe's 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

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

Disorder Subdivisions

  • None

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.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

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

The Arc
1660 L Street, NW, Suite 301
Washington, DC 20036
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60718
Fax: (815)895-2432
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: 33 383 30 93 34
Fax: 33 383 30 00 68
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
Email: me20t@nih.gov
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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Australian Leukodystrophy Support Group, Inc.
Nerve Centre Building
54 Railway Road
BLACKBURN VIC 3130,
Australia
Tel: +61 3 9584 7070
Fax: +61 3 95834379
Tel: 1800 141 400
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/

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 www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  7/23/2007
Copyright  1987, 1988, 1990, 1995, 1997, 2002, 2007 National Organization for Rare Disorders, Inc.

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