Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation.
Sodium dichloroacetate (DCA) was administered to a 1-year-old female case of Leigh syndrome, who had a T > G point mutation at nt 8993 of mitochondrial DNA. Her biochemical and clinical symptoms improved gradually, but proton magnetic resonance spectroscopy revealed reduction of the N-acetylaspartate/creatine ratio, and magnetic resonance imaging showed progressive cerebral atrophy despite the DCA therapy. These results suggest that DCA therapy may not retard the progress of the primary disease in Leigh syndrome, but produced clinical improvement most likely by reducing toxic accumulation of lactate.
Takanashi
J
J
Department of Pediatrics, Faculty of Medicine, University of Chiba, Chuo-ku, Chiba-shi, Japan.
Sugita
K
K
Tanabe
Y
Y
Maemoto
T
T
Niimi
H
H
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000097:blood / Q000134:cerebrospinal fluid; D001921:Brain / Q000187:drug effects / Q000378:metabolism; D003401:Creatine / Q000097:blood / Q000134:cerebrospinal fluid; D004272:DNA, Mitochondrial / Q000235:genetics*; D003999:Dichloroacetic Acid / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D007888:Leigh Disease / Q000188:drug therapy* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009154:Mutation
D004272:DNA, Mitochondrial; D007773:Lactates; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003999:Dichloroacetic Acid; D003401:Creatine