krabbe disease

Pathophysiology and Molecular Genetics Krabbe disease is a severe, autosomal recessive lysosomal storage disorder caused by mutations in the GALCGALC gene (located on chromosome 14q31), which encodes the lysosomal enzyme galactosylceramidase (GALC). The deficiency of GALC leads to the failure of catabolizing galactosylceramide, a major component of myelin lipids. This results in two primary pathogenic…