Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padua, Italy.
J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29.
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Treatment with riboflavin and L-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.
多种酰基辅酶 A 脱氢酶缺乏症，也称 II 型戊二酸尿症，是一种由于电子转移黄素蛋白（ETF）的 ETFA 和 ETFB 编码缺陷，或电子转移黄素蛋白脱氢酶（ETFDH）的 ETFDH 基因缺陷导致的脂肪酸氧化的常染色体隐性遗传病。这种疾病可能表现为严重的新生儿起病型和轻微的晚发型，其起病年龄和临床表现存在异质性。我们描述了两名 70 多岁的患者，因非特异性肌病就诊，结果发现是 ETFDH 基因突变的显性携带者。用核黄素和左旋肉碱治疗后改善了临床和生化特征。这种情况即使在老年也应纳入肌病的鉴别诊断中。
