Izumi Rumiko, Suzuki Naoki, Nagata Mari, Hasegawa Takafumi, Abe Yu, Saito Yuka, Mochizuki Hiroshi, Tateyama Maki, Aoki Masashi
Department of Neurology, Tohoku University School of Medicine, Japan.
Intern Med. 2011;50(21):2663-8. doi: 10.2169/internalmedicine.50.5172. Epub 2011 Nov 1.
We report an adult case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by episodic recurrent rhabdomyolysis and acute renal failure after the age of 46. Muscle biopsy revealed lipid storage myopathy and the finding of serum acylcarnitine and urine organic acid analyses were consistent with MADD. A compound heterozygous mutation was identified in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene, including a novel missense mutation, which confirmed the diagnosis of MADD. After administration of riboflavin and L-carnitine, the muscle weakness and fatigability gradually improved. Acylcarnitine and urine organic acid were also normalized after supplementation. Thus, MADD should be included in one of the differential diagnoses for adult recurrent rhabdomyolysis. Gene analysis is useful to confirm the diagnosis, and early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
我们报告了一例成年迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症（MADD）病例，其特征为46岁后出现发作性复发性横纹肌溶解和急性肾衰竭。肌肉活检显示脂质贮积性肌病，血清酰基肉碱和尿有机酸分析结果与MADD一致。在电子传递黄素蛋白脱氢酶（ETFDH）基因中鉴定出复合杂合突变，包括一个新的错义突变，这证实了MADD的诊断。给予核黄素和左旋肉碱后，肌肉无力和疲劳逐渐改善。补充后酰基肉碱和尿有机酸也恢复正常。因此，MADD应纳入成人复发性横纹肌溶解的鉴别诊断之一。基因分析有助于确诊，早期诊断很重要，因为核黄素治疗对大量MADD患者有效。
