Krabbe Disease

Krabbe disease is an autosomal recessive lysosomal storage disease, caused by mutations in the gene encoding the hydrolytic enzyme galactosylceramidase (GALC), which results in the destruction of the myelin of nerve cells in the brain and throughout the nervous system. The infantile type of Krabbe disease is the most common and severe form, typically manifesting before six months of age, with rapid progression and median survival of approximately two years in the majority of these patients. The estimated incidence of early and late-stage infantile Krabbe disease is 1 in 100,00 live births.