中链酰基辅酶A脱氢酶缺乏症诊治进展

Progress in diagnosis and treatment of medium chain acyl coenzyme A dehydrogenase deficiency

中链酰基辅酶A脱氢酶缺乏症是一种较为常见的线粒体脂肪酸氧化缺陷病。临床表现常见低酮性低血糖、呕吐以及嗜睡、肌无力等。临床表现各异及生化检查不典型可增大诊断难度,容易误诊。由于可以导致急性、致命性低血糖和昏迷发作,若未及时诊治,病死率及遗留后遗症的发生率高,行新生儿遗传代谢病筛查早期确诊并及时治疗,可得到较为满意的结果。

Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.