Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by loss-offunction mutations in the GALC gene, which encodes for the enzyme galactosylceramidase (GALC). GALC is crucial for myelin metabolism. Functional deficiency of GALC leads to toxic accumulation of psychosine, dys...
ORGANISM(S): Homo sapiens (Human)
