title: Therapeutic options in other metabolic myopathies.
abstract: Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review of evidence from randomized controlled trials in McArdle disease (glycogen storage disease type V, muscle phosphorylase deficiency) and carnitine palmitoyltransferase (CPT) 2 deficiency. A brief overview on current treatment options in rhabdomyolysis is also included because patients with McArdle disease and CPT 2 often experience such potentially life-threatening complications.
authors.affiliation: Department of Neurology, Ruhr-University Bochum, Kliniken Bergmannsheil, Bochum, Germany. matthias.vorgerd@rub.de
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
mesh_terms: D000818:Animals; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D003401:Creatine / Q000627:therapeutic use; D005081:Exercise Therapy; D006008:Glycogen Storage Disease / Q000235:genetics / Q000628:therapy; D006012:Glycogen Storage Disease Type V / Q000178:diet therapy / Q000235:genetics / Q000628:therapy; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics / Q000502:physiology; D008659:Metabolic Diseases / Q000235:genetics / Q000628:therapy*; D009135:Muscular Diseases / Q000235:genetics / Q000628:therapy*; D012206:Rhabdomyolysis / Q000188:drug therapy / Q000628:therapy
chemical_list: D002334:Carnitine O-Palmitoyltransferase; D003401:Creatine