Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases
1
조회
0
다운로드
1
인용
0
참고문헌
초록
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.
Abstract
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.
참고문헌 (10)
- Przyrembel H, "Glutaric aciduria type II: report on a previously undescribed metabolic disorder", Clin Chim Acta, 66, pp.227~239 (1976)
- Lindner M, "Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting", J Inherit Metab Dis, 33, pp.521~526 (2010)
- Grünert SC, "Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency", Orphanet J Rare Dis, 9, pp.117~ (2014)
- Lehnert W, "Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers", Europ J Pediat, 139, pp.56~59 (1982)
- Al-Essa MA, "Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease", J Perinatol, 2, pp.120~128 (2000)
- Olsen RK, "ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency", Brain, 130, pp.2045~2054 (2007)
- Chen M, "A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency", Int J Neurosci, 128, pp.291~294 (2018)
- Yotsumoto Y, "Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2", Mol Genet Metab, 94, pp.61~67 (2008)
- Livak KJ, "Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method", Methods, pp.402~408 (2001)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)