Bell R B, Brownell A K, Roe C R, Engel A G, Goodman S I, Frerman F E, Seccombe D W, Snyder F F
Department of Clinical Neurosciences, University of Calgary, AB, Canada.
Neurology. 1990 Nov;40(11):1779-82. doi: 10.1212/wnl.40.11.1779.
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 storage 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 oxidoreductase (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.
一名自6岁起出现轻度肌病症状且不耐受禁食的19岁女性，表现出类似瑞氏综合征和肌病的症状。检查发现为脂质贮积性肌病、II型戊二酸血症以及骨骼肌肉碱缺乏。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。她后来死于误吸继发的肺部并发症。后续研究确定电子传递黄素蛋白：泛醌氧化还原酶（ETF:QO）缺乏（成纤维细胞ETF:QO活性为2.9 mU/mg，正常范围为14.1 +/- 3.8 mU/mg）为其病因。这是首例记录在案的成年患者被诊断为ETF:QO缺乏的病例。
