Metabolic myopathies

Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism. We have developed several dietary treatment strategies for these conditions, and developed diagnostic tests. In collaboration with Queen Square in London, we investigate the effect of valproic acid in McArdle disease, with the intent to increase gene expression of dormant isoforms of phosphorylase to rescue the phenotype. In collaboration with Hôpital Pitié-Salpêtrière in Paris, we investigate the effect of treating patients with McArdle disease with triheptanoin, to spark combustion of fats. We are also partners in the creation and of a registry for muscle glycogenoses (EUROMAC, (http://euromacregistry.eu/). Several ongoing studies at our center focus on describing the energy defect and pathophysiology of more newly described muscle glycogenosis.



References

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  • Preisler N, Laforet P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J. Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III. Neurology 2015; 84(17): 1767-1771.
  • Ørngreen MC, Jeppesen TD, Taivassalo T, Hauerslev S, Preisler N, Heinecke K, Haller RG, Vissing J, van Hall G. Lactate and energy metabolism during exercise in patients with blocked glycogenolysis (McArdle disease). J Clin Endocrinol Metab 2015; 100(8): E1096-E1104.
  • Witting N, Duno M, Piraud M, Vissing J. Severe axial myopathy in McArdle disease. JAMA Neurology 2014; 71(1): 88-90.
  • Orngreen MC, Madsen KL, Preisler N, Andersen G, Vissing J, Laforêt P. Bezafibrate in skeletal muscle fatty oxidation disorders: a randomized clinical trial. Neurology 2014; 82(7): 607-613.
  • Andreassen CS, Schlütter JM, Vissing J, Andersen H. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up. Mol Genet Metab 2014; 112(1): 40-43.
  • Andreassen CS, Schlütter JM, Vissing J, Andersen H. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up. Mol Genet Metab 2014 Mar 5. pii: S1096-7192(14)00087-0. doi: 10.1016/j.ymgme.2014.02.015
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  • Preisler N, Laforêt P, Echaniz-Laguna A, Orngreen MC, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Stojkovic, T, Piraud M, Petit FM, Vissing J. Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency. J Clin Endocrinol Metab 2013; 98: E1235-1240.
  • Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P. Exercise intolerance in glycogen storage disease type III: Weakness or energy deficiency? Mol Genet Metab 2013; 109(1): 14-20.
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  • Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J. Muscle phosphorylase kinase deficiency; a neutral metabolic variant or a disease? Neurology 2012; 78: 265-268.
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  • PYGM in patients with McArdle disease. Ann Hum Genet 2009; 73: 292-297.
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  • Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Muscle phosphoglycerate mutase (PGAM) deficiency revisited. Arch Neurol 2009; 66(3): 394-398.
  • Andersen ST, Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: Effects on exercise capacity. J Neurol Neurosurg Psychiatry 2008; 79: 1359-1363.
  • Andersen ST, Haller, RG, Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 2008; 65: 786-789.
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  • Andersen ST, Dunø M, Schwartz M, Vissing J. Do carriers of PYGM mutations have symptoms of McArdle disease? Neurology 2006; 67: 716-718.
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  • Ørngreen MC, Dunø M, Christensen E, Sacchetti M, Schwartz M, Vissing J. Fuel utilization in subjects with carnitine palmitoyltransferase II gene mutations. Ann Neurol 2005; 57: 60-66.
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  • Ørngreen MC, Nørgaard MG, Sacchetti M, van Engelen BG, Vissing J. Fuel utilization in patients with very long-chain acyl-CoA dehydrogenase deficiency. Ann Neurol 2004; 56: 279-282.
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  • Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J. A nonischemic forearm exercise test for McArdle disease. Ann Neurol 2002; 52: 153-159.
  • Nielsen JN, Wojtaszewski JFP, Haller RG, Hardie G, Kemp B, Richter EA, Vissing J. Role of 5’AMPactivated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle’s disease. J Physiol (Lond) 2002; 541: 979989.
  • Nielsen JN, Vissing J, Wojtaszewski JFP, Haller RG, Begum N, Richter EA. Decreased insulin action in skeletal muscle from patients with McArdle’s disease. Am J Physiol (Endocrinol Metab) 2002; 282: E1267-E1275.
  • Vissing J, MacLean DA, Vissing SF, Saltin B, Haller RG. The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle’s disease. J Physiol 2001; 537: 641-649.
  • Vissing J, Schmalbruch H, Haller RG, Clausen T. Muscle phosphoglycerate mutase deficiency with tubular aggregates: Effect of dantrolene. Ann Neurol 1999; 46: 274-277.
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