[Treatment of mitochondrial diseases].
[pyruvate dehydrogenase deficiency]
Until gene therapy is perfected, developed should reaching for a curative treatment of mitochondrial diseases in a next future, the present management of these metabolic disorders is directed to obtain the optimum energetic efficiency of dysfunctional mitochondria. Among other general measures the patient must avoid fever, exhausting exercise and drugs that inhibit mitochondrial metabolism. Dietetic restrictions are more useful in lipidic disorders, such as fatty acid oxidation or carnitine cycle defects, in which diets free of long chain and very long chain fatty acids are recommended. Pharmacological therapy should always be attempted, since some patients may experience a beneficial response. In respiratory chain deficits, coenzyme Q is the most widely used drug, although in the only double blind placebo-controlled study performed, results were contradictory. In isolated cases, vitamins K3, B2, C and E have been useful. Exogenous carnitine treatment may improve symptoms (sometimes dramatically) in patients with primary or secondary carnitine deficit. Dichloroacetate administration has a mild benefit in some cases of Leigh disease due to pyruvate dehydrogenase deficiency. Finally, sustained aerobic exercise may ameliorate symptoms of exercise intolerance due to mitochondrial dysfunction.
