以肌病为主要表现的迟发型多种酰基辅酶A脱氢酶缺乏症一例

A Case Report of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency with Predominant Myopathic Manifestations

  • 摘要: 多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)是一种罕见的脂肪酸氧化障碍类遗传代谢病,临床表现具有较高异质性。以肌病为主要表现的迟发型MADD易与炎性肌病混淆,早期识别并给予大剂量维生素B2可获得较好疗效。本文报道1例以运动不耐受及进行性活动后肌无力为主要表现的MADD患者,结合血、尿代谢筛查及基因检测结果对该病例进行分析,为该病的早期诊断提供参考。

     

    Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inherited metabolic disorder of fatty acid oxidation, with highly heterogeneous clinical manifestations. Late-onset MADD predominantly presenting with myopathic features is easily confused with inflammatory myopathy; early identification and administration of high-dose vitamin B2 can achieve favorable therapeutic effects. This article reports a MADD patient with main manifestations of exercise intolerance and progressive post-exertion muscle weakness. The case is analyzed by integrating blood and urine metabolic screening results and genetic testing findings, so as to provide a reference for the early diagnosis of this disease.

     

/

返回文章
返回