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2022 Feb 24
Eur J Neurol
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).