Laforêt Pascal, Ørngreen Mette, Preisler Nicolai, Andersen Grete, Vissing John
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651 Paris CEDEX 13, France.
Arch Neurol. 2012 Apr;69(4):530-3. doi: 10.1001/archneurol.2011.631.
To determine whether impaired exercise capacity in neutral lipid storage disease with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role.
We studied a 37-year-old woman with neutral lipid storage disease with myopathy, who cycled while lipid oxidation was assessed using U-(13)C palmitate tracer dilution technique. The effect of a glucose infusion during exercise was also studied.
Neuromuscular research unit.
The exercise-induced increase in fat oxidation was virtually abolished in the patient. Treatment with intravenous glucose infusion improved maximal oxygen uptake from 23 to 27 mL × kg(-1) × min(-1), and maximal workload from 75 to 100 W.
These results demonstrate that in addition to fixed weakness, neutral lipid storage disease with myopathy is also characterized by a profound block in fat oxidation, which limits exercise tolerance.
确定伴有肌病的中性脂质贮积病患者运动能力受损是否仅由肌肉无力所致，还是能量代谢缺陷（脂肪氧化受阻）也起作用。
我们研究了一名37岁患有伴有肌病的中性脂质贮积病的女性，她在骑自行车时使用U-（13）C棕榈酸示踪剂稀释技术评估脂质氧化情况。还研究了运动期间葡萄糖输注的影响。
神经肌肉研究单位。
该患者运动诱导的脂肪氧化增加实际上被消除。静脉输注葡萄糖治疗使最大摄氧量从23毫升×千克（-1）×分钟（-1）提高到27毫升×千克（-1）×分钟（-1），最大工作量从75瓦提高到100瓦。
这些结果表明，除了固定性肌无力外，伴有肌病的中性脂质贮积病还具有脂肪氧化严重受阻的特征，这限制了运动耐力。
