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.