Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.

Abstract excerpt

Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (GALC) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in GALC included a missense...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Galactosylceramidase
• Share to Leukodystrophy, Globoid Cell
• Share to Mutation