Papers of the Week

Krabbe disease (KD), or globoid cell leukodystrophy (OMIM #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age of onset can vary from early infantile (3 to 6 months of age) to adulthood, which has been rarely reported. Little is known about the natural history and early manifestations of adult-onset Krabbe disease (AOKD).