TY  - JOUR
T1  - BLocked muscle fat oxidation during exercise in neutral lipid storage disease
AU  - Laforêt P, Ørngreen M, Preisler N, Andersen G, Vissing J
Y1  - 2012/04/01
N1  - 10.1001/archneurol.2011.631
JO  - Archives of Neurology
SP  - 530
EP  - 533
VL  - 69
IS  - 4
N2  - 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 27 mL × 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.
SN  - 0003-9942
M3  - doi: 10.1001/archneurol.2011.631
UR  - http://dx.doi.org/10.1001/archneurol.2011.631
ER  -