A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC).
- Author:
Kyeong Sik NAM
1
;
Sang Hyo RHU
;
Young Hui SUNG
;
Mi Sun OH
;
Hye Won JEONG
;
Byung Chul LEE
;
Ki Hyeong LEE
;
Ki Sik MIN
;
Sung Hee HAN
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Neurology and Hallym University College of Medicine, Seoul, Korea. klee@mail.mcg.edu
- Publication Type:Case Report
- Keywords:
Krabbe disease;
Optic hypertrophy;
GALC
- MeSH:
beta-Galactosidase*;
Child, Preschool;
Female;
Galactosylceramidase;
Genetic Testing;
Heterozygote;
Humans;
Korea;
Leukodystrophy, Globoid Cell*;
Muscle Spasticity;
Neuroimaging;
Seizures
- From:Journal of the Korean Neurological Association
2004;22(2):167-171
- CountryRepublic of Korea
- Language:Korean
-
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.
