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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 616 - 618 (3page)
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초록· 키워드
오류제보하기
Multiple acyl-CoA dehydrogenase deficiency (MADD; OMIM# 231680) is an autosomal recessive fatty acid oxidation disorder [1]. Through the expanded newborn screening test (NST), its prevalence has been estimated to be 1 in 750,000–2,000,000 newborns [2]. MADD is divided into three clinical types [3]: the neonatal onset form with (type I) or without (type II) congenital anomalies [4], and the late-onset form (type III), which is often asymptomatic [5]. MADD is caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxidoreductase (ETFDH) [6, 7]. Approximately 300 patients worldwide have been diagnosed as having MADD by genetic analysis, and 100 ETFDH mutations have been reported to date [8]. We report two MADD patients carrying novel, likely pathogenic variants, in ETFDH for the first time in Korea. Written informed consent was obtained from the patients’ parents.
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