脂肪累积性肌肉病患者血浆左旋肉碱含量测定的意义

Lipid storage myopathy and determination of serum free carnitine

目的 讨论左旋肉碱测定在脂肪累积性肌肉病 (LSM)诊断及其病因分类和治疗监测方面的意义。方法 用酶学分析法对经肌肉活检证实的 8例LSM病人和其他 9例神经肌肉病病人 ,以及 18名正常对照进行血浆左旋肉碱测定。结果 8例LSM病人的血浆左旋肉碱含量为 (4.4± 2 .5 )mg/L ;9例其他神经肌肉病病人为 (10 .2± 2 .5 )mg/L ;18例正常对照为 (11.8± 2 .9)mg/L。经方差分析 ,LSM组与正常对照组及其他神经肌肉病组相比 ,差异均有非常显著意义 (P <0 .0 0 1)。结论 血浆左旋肉碱测定是诊断脂肪累积性肌肉病的一种特异、灵敏的检测方法。

Objective To determine the serum concentrations of free carnitine in lipid storage myopathy(LSM) and the roles in diagnosis,classification and therapy of LSM. Methods Fasting blood samples of 8 LSM cases identified by muscle biopsies, 9 cases of other neuromuscular diseases and 18 cases of normal controls were enzymatically analyzed for free carnitine levels. Results In 8 LSM cases serum values of free carnitine were 4.4±2.5 mg/L, in 9 cases with other neuromuscular disease, serum levels of free carnitine were 10.2±2.5 mg/L and in 18 normal controls,11.8±2.9 mg/L. LSM cases showed significant decrease of free carnitine concentrations as compared with normal controls and other patients with neuromuscular diseases (P<0.001). Conclusions Determination of the serum free carnitine concentration is a highly specific, sensitive diagnostic method for LSM.