National Organization for Rare Disorders, Inc.
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.
- Galactocerebrosidase (GALC) Deficiency
- Galactocerebroside Beta-Galactosidase Deficiency
- Galactosylceramide Lipidosis
- Galactosylceramidase Deficiency
- Krabbe's Disease
- Leukodystrophy, Globoid Cell
- Sphingolipidosis, Krabbe's Type
- Globoid Cell Leukoencephalopathy
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
1825 K Street NW, Suite 1200
Washington, DC 20006
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Australian Leukodystrophy Support Group, Inc.
54 Railway Road
Blackburn, VIC 3130
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
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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
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Last Updated: 7/23/2007
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