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J Korean Neurol Assoc. 2004;22(2):167-171.
- A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside β-galactosidase Gene (GALC)
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Kyeong-Sik Nam
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Department of Neurology and Pediatrics*, Hallym University College of Medicine, Seoul;
Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center†, Seoul, Korea
- 갈락토세레브로시다아제 유전자 분석으로 확진된 크라베(Krabbe)병 1예
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남경식, 류상효 성영희 오미선 정혜원 이병철 이기형 민기식 한성희 기창석 김종원
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한림대학교 의과대학 신경과학교실, 소아과학교실*, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실
- 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.Key Words: Krabbe disease, Optic hypertrophy, GALC
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