脂质沉积性肌病(lipid storage myopathy,LSM)是长链脂肪酸氧化障碍的代谢性疾病。1969年Bradley等[1]首次肌肉活检诊断LSM。近年研究发现很多疾病均表现LSM,现将有关进展综述如下。1原发性肉碱缺乏症(primary carnitine deficiency,PCD)PCD分为原发性肌肉肉毒碱缺乏和原发性系 Lipid storage myopathy (LSM) is a metabolic disease of long chain fatty acid oxidation disorder. 1969 Bradley et al [1] the first muscle biopsy diagnosis of LSM. In recent years, many studies have found that the disease showed LSM, the progress is summarized below. 1 Primary carnitine deficiency (PCD) PCD is divided into primary muscle carnitine deficiency and primary line