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.