Morris A A, Turnbull D M
Department of Child Health, University of Newcastle upon Tyne, UK.
Curr Opin Neurol. 1998 Oct;11(5):485-90. doi: 10.1097/00019052-199810000-00011.
Fatty acid oxidation defects can cause recurrent rhabdomyolysis or chronic progressive muscle weakness. Diagnosis is often possible on blood using tandem mass spectrometry or molecular genetic techniques. Riboflavin and carnitine are effective in some cases of multiple acyl-CoA dehydrogenase deficiency and primary carnitine deficiency, respectively. Controlled trials are needed to evaluate other proposed forms of treatment.
脂肪酸氧化缺陷可导致复发性横纹肌溶解或慢性进行性肌无力。通常可通过串联质谱法或分子遗传学技术对血液进行诊断。核黄素和肉碱分别对某些多种酰基辅酶A脱氢酶缺乏症和原发性肉碱缺乏症有效。需要进行对照试验来评估其他提议的治疗方法。
