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.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Pruebas Genéticas
/
Beta-Galactosidasa
/
Neuroimagen
/
Galactosilceramidasa
/
Heterocigoto
/
Corea (Geográfico)
/
Leucodistrofia de Células Globoides
/
Espasticidad Muscular
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Child, preschool
/
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2004
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS