ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE (ETF-QO) DEFICIENCY IN AN ADULT
ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE (ETF-QO) DEFICIENCY IN AN ADULT
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DOI：
10.1212/wnl.40.11.1779
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发表时间：
1990-11-01
期刊：
影响因子：
9.9
通讯作者：
SNYDER, FF
中科院分区：
文献类型：
--
作者：
BELL, RB;BROWNELL, AKW;SNYDER, FF
1例19岁女性，自6岁起出现轻度肌病症状，禁食不耐受，出现雷耶样综合征和肌病。调查发现骨骼肌脂储存肌病、II型戊二酸血症和肉碱缺乏症。核黄素和肉碱治疗纠正了代谢异常，她的临床症状有所改善。她后来死于继发于吸入的肺部并发症。随后的研究证实电子转移黄素蛋白：泛醌氧化还原酶(ETF：QO)缺乏(成纤维细胞ETF：QO活性为2.9mU/mg，正常范围为14.1+-)。3.8亩/毫克)作为她患病的原因。这是第一例记录在案的成人ETF：QO病例。
A 19-year-old woman with mild myopathic symptoms from age 6 and fasting intolerance presented with a Reye-like syndrome and a myopathy. Investigations disclosed a lipid storge myopathy, type II glutaric acidemia, and carnitine deficiency in skeletal muscle. Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically. She later died from pulmonary complications secondary to aspiration. Subsequent studies established electron transfer flavoprotein:ubiquinone oxidoreductse (ETF:QO) deficiency (fibroblast ETF:QO activity was 2.9 mU/mg, normal range is 14.1 .+-. 3.8 mU/mg) as the cause of her illness. This is the first documented case of ETF:QO diagnosed in an adult.