Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
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摘要Background: Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) or glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA (OMIM 608053), electron transfer flavoprotein beta-subunit, ETFB (OMIM 130410) and electron transfer flavoprotein dehydrogenase, ETFDH (OMIM 231675). Some MADD patients are responsive to riboflavin treatment with an excellent prognosis. Recently, mutations in ETFDH were found to be responsible for all riboflavin-responsive MADD patients. In this Study, we present the clinical features and molecular studies of 2 Chinese families with riboflavin-responsive MADD.
著者Law LK, Tang NLS, Hui J, Fung SLM, Ruiter J, Wanders RJA, Fok TF, Lam CWK
期刊名稱Clinica Chimica Acta
出版年份2009
月份6
日期27
卷號404
期次2
出版社Elsevier
頁次95 - 99
國際標準期刊號0009-8981
電子國際標準期刊號1873-3492
語言英式英語
關鍵詞Electron transfer flavoprotein dehydrogenase; Mitochondrial fatty acid beta-oxidation; Multiple acyl-CoA dehydrogenation defect; Riboflavin-responsive MADD
Web of Science 學科類別Medical Laboratory Technology; MEDICAL LABORATORY TECHNOLOGY

上次更新時間 2020-15-09 於 01:01