Alternative Names & Classifications:
Globoid Cell Leukodystrophy (CLINICAL)
Description
Krabbe disease is a lysosomal storage disorder caused by a mutation in the GALC gene, which leads to a deficiency of the enzyme galactocerebrosidase. This deficiency causes toxic galactolipids to accumulate in the brain, aggressively destroying the myelin-producing cells and creating giant, abnormal "globoid cells." In its classic infantile form, it is rapidly progressive and fatal before age two.