Pascal Laforêt1, Mette Ørngreen, Nicolai Preisler, Grete Andersen, John Vissing. 1. 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. pascal.laforet@psl.aphp.fr
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-(13)C 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.
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-(13)C 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.
Authors: William Todd Cade; Kathryn L Bohnert; Linda R Peterson; Bruce W Patterson; Adam J Bittel; Adewole L Okunade; Lisa de Las Fuentes; Karen Steger-May; Adil Bashir; George G Schweitzer; Shaji K Chacko; Ronald J Wanders; Christina A Pacak; Barry J Byrne; Dominic N Reeds Journal: J Inherit Metab Dis Date: 2019-04-11 Impact factor: 4.982
Authors: John J Dubé; Mitch T Sitnick; Gabriele Schoiswohl; Rachel C Wills; Mahesh K Basantani; Lingzhi Cai; Thomas Pulinilkunnil; Erin E Kershaw Journal: Am J Physiol Endocrinol Metab Date: 2015-03-17 Impact factor: 4.310