Martin J J, Vercruyssen A, de Barsy T, Ceuterick C
Clin Neurol Neurosurg. 1985;87(4):275-81. doi: 10.1016/0303-8467(85)90135-0.
A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay. Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later. Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.
在一名67岁的退休工厂工人身上发现了肌肉肉碱缺乏症,其临床表现为迟发性肌病。诊断通过肌肉活检和游离肉碱测定做出。治疗包括中链甘油三酯饮食和每天口服6克D,L-肉碱,15个月后的对照肌肉活检证实临床症状有显著改善。我们的患者是报道中年龄最大的肌肉肉碱缺乏症患者。迟发性肌病的鉴别诊断应包括脂质肌病,其中一些可以成功治疗。