Department of Neurology, Otemae Hospital, Chuo-ku, Osaka, Japan.
Neuromuscul Disord. 2012 Feb;22(2):159-61. doi: 10.1016/j.nmd.2011.08.004. Epub 2011 Sep 9.
We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene (ETFDH), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content.
我们报告了一例 37 岁男性患有多种酰基辅酶 A 脱氢酶缺乏症（MADD）。该患者一年来臀部和大腿肌肉运动耐受力下降，限制碳水化合物饮食后症状迅速恶化。血液检查发现电子转移黄素蛋白脱氢酶基因（ETFDH）的两个新型错义突变的复合杂合子，以及异常的 LDH 同工酶图谱：LDH-1（60.0%）和 LDH-2（26.0%）占主导地位，LDH-1/LDH-2 比值异常升高（2.3），与肌源性 LDH-5（4.0%）相比。口服核黄素治疗显著改善了他的运动不耐受和 LDH 图谱：LDH-1（34.4%）、LDH-2（34.9%）、LDH-5（6.9%）和 LDH-1/LDH-2 比值（1.0）。异常的 LDH 同工酶图谱可能是成人发病的 MADD 的特征之一，其选择性影响相对 LDH-1 含量较高的 I 型肌纤维。
