Lipid storage myopathy and determination of serum free carnitine / 中华神经科杂志

ABSTRACT

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