[Therapy of metabolic myopathies].
Metabolic myopathies are subdivided into disturbances of anaerobic cytoplasmic and aerobic mitochondrial metabolism. With the exception of carnitine deficiency these myopathies are based on enzymopathies. Since gene therapy is not yet available no causal therapy is possible. This paper discusses possibilities for symptomatic therapy. Good results are found with carnitine substitution. Enzymopathies can be improved by using other metabolic pathways or by addition of co-factors of the impaired pathways. This leads to a reduction of myalgia, cramps, and endurance exercise intolerance.
Reichmann
H
H
Neurologische Klinik und Poliklinik, Universität Würzburg.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy*; D002331:Carnitine / Q000172:deficiency; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D014450:Electron Transport Complex III / Q000172:deficiency; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy; D017241:MELAS Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy; D017243:MERRF Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy*
D002334:Carnitine O-Palmitoyltransferase; D005087:Glucan 1,4-alpha-Glucosidase; D014450:Electron Transport Complex III; D002331:Carnitine
Therapie metabolischer Myopathien.