类脂沉积性肌病是一组少见的其特征为Ⅰ型纤维内异常量的中性脂积聚性疾病,临床表现为严重的肌无力.已查明引起本病有两种生物化学缺陷—即肉毒碱(Carnitine)和肉毒碱软脂酸转移酶缺乏,以上缺陷影响肌细胞通过线粒体膜转运长链脂肪酸的功能.有人报告减少长链脂肪酸的摄入,口服肉毒碱补充剂和皮质类同醇均可使肌力改善.作者报告1例1968年就诊原先健康的14岁男孩,几个月内进行性行走困难和体重减轻8公斤.无肌 Steatosis is a rare group of neutral lipid accumulation diseases characterized by an abnormal amount of type I fibers and is clinically manifest as severe myasthenia.It has been identified that there are two biochemical deficiencies in the disease - Carnitine and carnitine palmitate transferase deficiency, the above defects affect myocyte transport through the mitochondrial membrane of long-chain fatty acid function was reported to reduce the intake of long-chain fatty acids, oral administration of carnitine supplements and cortex The same type of alcohol can improve muscle strength. The authors report a case of 1968, the original health of 14-year-old boy visits, a few months of sexual difficulties and weight loss of 8 kg.