DICHLOROACETATE TREATMENT IN LEIGH-SYNDROME CAUSED BY MITOCHONDRIAL-DNA MUTATION

Sodium dichloroacetate (DCA) was administered to a 1-year-old female c ase of Leigh syndrome, who had a T > G point mutation at nt 8993 of mi tochondrial DNA. Her biochemical and clinical symptoms improved gradua lly, but proton magnetic resonance spectroscopy revealed reduction of the N-acetylaspartate/creatine ratio, and magnetic resonance imaging s howed progressive cerebral atrophy despite the DCA therapy. These resu lts suggest that DCA therapy may not retard the progress of the primar y disease in Leigh syndrome, but produced clinical improvement most li kely by reducing toxic accumulation of lactate. (C) 1997 Elsevier Scie nce B.V.