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갈락토세레브로시다아제 유전자 분석으로 확진된 크라베(Krabbe)병 1예

A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside β-galactosidase Gene (GALC)

이병철|한성희|김종원|이기형|기창석|오미선|류상효|민기식|성영희|남경식|정헤원
대한신경과학회 (Korean Neurological Association)|2004.04|대한신경과학회지 (Journal of the Korean Neurological Association)|제22권 제2호|pp. 167-171

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참고문헌

주제분류신경과학

초록

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.

참고문헌 (11)

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