Pan Xue-Qi, Chang Xue-Li, Zhang Wei, Meng Hua-Xing, Zhang Jing, Shi Jia-Ying, Guo Jun-Hong
Department of Neurology, Frist Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China.
World J Clin Cases. 2020 Mar 6;8(5):995-1001. doi: 10.12998/wjcc.v8.i5.995.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion. Late-onset MADD with syncope has not been reported previously.
We report a 17-year-old girl with exercise intolerance and muscle weakness. She felt palpitation and shortness of breath after short bouts of exercise. She also suffered from a transient loss of consciousness many times. Muscle biopsy showed lipid storage. Genetic mutation analysis indicated a compound heterozygous mutation c.250G > A (p.A84T) and c.872T > G (p.V291G) in the gene. The results of Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient experienced a loss of consciousness. After treatment with riboflavin and carnitine, muscle weakness and palpitation symptoms improved rapidly. No loss of consciousness occurred, and the Holter electrocardiogram monitoring was normal.
Late-onset MADD with supraventricular tachycardia can cause cardiac syncope. Carnitine and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac syncope. Attention should be paid to the prevention of cardiac syncope when diagnosing late-onset MADD.
多种酰基辅酶A脱氢酶缺乏症（MADD）是一种罕见的常染色体隐性线粒体脂肪酸β氧化障碍疾病。晕厥是由于急性全脑灌注不足导致的短暂意识丧失。此前尚未报道过伴有晕厥的迟发性MADD。
我们报告一名17岁女孩，有运动不耐受和肌肉无力症状。她在短时间运动后会感到心悸和呼吸急促。她还多次出现短暂意识丧失。肌肉活检显示有脂质蓄积。基因突变分析表明该基因存在复合杂合突变c.250G>A（p.A84T）和c.872T>G（p.V291G）。动态心电图监测结果显示，患者意识丧失时出现室上性心动过速。经核黄素和肉碱治疗后，肌肉无力和心悸症状迅速改善。未再发生意识丧失，动态心电图监测正常。
伴有室上性心动过速的迟发性MADD可导致心源性晕厥。补充肉碱和核黄素对治疗伴有心源性晕厥的迟发性MADD有益。诊断迟发性MADD时应注意预防心源性晕厥。
