Abstract：
A 35-year-old male patient presented fluctuating bilateral lower extremity weakness for 3 years. Physical examination showed grade 4 proximal muscle weakness in both lower extremities and grade 5 distal muscle weakness. Laboratory data revealed elevated creatine kinase, triglycerides, and cholesterol. Muscle pathology showed deposition of lipid droplet under the sarcolemma. Bone densitometry indicated severe osteoporosis. Next-generation sequencing revealed a pathogenic mutation in the ETFDH gene. The patient was diagnosed with late-onset multiple acyl-CoA dehydrogenase deficiency. After riboflavin treatment, symptoms of the patient were relieved, physical endurance was restored, and bone mineral density was improved.
摘要：
一名35岁的男性患者表现出波动的双侧下肢无力3年。体格检查显示下肢4级近端肌无力和5级远端肌无力。实验室数据显示肌酸激酶升高,甘油三酯，和胆固醇。肌肉病理显示肌膜下有脂滴沉积。骨密度测定提示严重骨质疏松。下一代测序揭示了ETFDH基因中的致病性突变。患者被诊断为迟发性多酰基辅酶A脱氢酶缺乏症。核黄素处理后，患者症状缓解,身体耐力恢复了，骨密度得到改善。
