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All Diseases > Krabbe Disease
Alternative Names: Galactocerebrosidase Deficiency (GALC Deficiency); Galactocerebroside Beta-Galactosidsase Deficiency; Galactosylceramidase Deficiency; Galactosylceramide Lipidosis; Globoid Cell Leukoencephalopathy (GLD); Globoid Cell Leukodystrophy; Sphingolipidosis-Krabbe Type
Disease Category: Lysosomal Diseases
A rare, inherited lysosomal disorder which is divided into infantile and late-onset forms. It is caused by a missing or abnormal enzyme that cannot break down galactolipids (fat molecules with the sugar molecule, galactose, attached). Hallmark characteristics of this disease are nervous system demyelination (loss of the fatty coating surrounding nerves) and the formation of globoid cells (abnormally large cells in the brain containing more than one nucleus).
Research groups studying this disease
Lysosomal Disease Network (LDN)View Disease Definition
The Legacy of Angels Foundation
Works to promote the expansion of newborn screening and to further education, awareness, and research of Krabbe disease and cystic fibrosis.
Hunter's Hope Foundation
Supports and encourages those affected by Krabbe disease and related leukodystrophies.