Leukodystrophy, Krabbe's / Disease

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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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