J Korean Neurol Assoc.
2004 Apr;22(2):167-171.
A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)
- Affiliations
-
- 1Department of Neurology and Hallym University College of Medicine, Seoul, Korea. klee@mail.mcg.edu
- 2Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
- 3Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.
Abstract
- Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_215TP/302A.
