Abstract
Objective: 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. Design : We studied a 37-year-old woman with neutral lipid storage disease with myopathy, who cycled while lipid oxidation was assessed using U-13C palmitate tracer dilution technique. The effect of a glucose infusion during exercise was also studied. Setting: Neuromuscular research unit. Results: 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 27mL × kg-1 × min-1, and maximal workload from 75 to 100 W. Conclusions: 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.
| Original language | English |
|---|---|
| Journal | Archives of Neurology |
| Volume | 69 |
| Issue number | 4 |
| Pages (from-to) | 530-3 |
| Number of pages | 4 |
| ISSN | 0003-9942 |
| DOIs | |
| Publication status | Published - Apr 2012 |