A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)
Journal of the Korean Neurological Association
;
: 167-171, 2004.
Article
in Korean
| WPRIM
| ID: wpr-80724
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Genetic Testing
/
Beta-Galactosidase
/
Neuroimaging
/
Galactosylceramidase
/
Heterozygote
/
Korea
/
Leukodystrophy, Globoid Cell
/
Muscle Spasticity
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child, preschool
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2004
Type:
Article
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