논문KCI 등재후보
A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
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초록
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.
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참고문헌 (13)
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생화학 및 분자유전학 검사로 진단한 한국인 조기유년기형 이염성백질이영양증 1례와 문헌 고찰기창석, 김영빈, 김종원, 박형두, 송정한, 이수연, 이지훈, 최리화대한진단검사의학회 · Laboratory Medicine Online2017 · 제7권 제1호Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy박성섭, 박형두, 성문우, 송상훈, 송정한, 은백린, 이승준, 이윤진, 준선희, 한민제대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제4호Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy강동희, 기창석, 이동환, 이승태, 이용화, 이유경, 전병열, 홍용희대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제5호A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation기창석, 이문향, 이상구, 이지훈, 최수한대한소아신경학회 · 대한소아신경학회지2009 · 제17권 제2호갈락토세레브로시다아제 유전자 분석으로 확진된 크라베(Krabbe)병 1예기창석, 김종원, 남경식, 류상효, 민기식, 성영희, 오미선, 이기형, 이병철, 정헤원, 한성희대한신경과학회 · 대한신경과학회지2004 · 제22권 제2호Comparing Initial Magnetic Resonance Imaging Findings to Differentiate between Krabbe Disease and Metachromatic Leukodystrophy in Children이승현, Jung-Eun Cheon, Seok Young Koh, Seul Bi Lee, Yeon Jin Cho, Young Hun Choi대한자기공명의과학회 · Investigative Magnetic Resonance Imaging2021 · 제25권 제2호
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