Article
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Neurogenetics - 1 Apr 2022
Iacono Salvatore, Del Giudice Elda, Leon Alberta, La Bella Vincenzo, Spataro Rossella
Abstract excerpt
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into subtypes based on the age of onset; these are early infantile, late infantile, juvenile, and adult-onset. We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and...
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