title: Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
abstract: BACKGROUND
  Recently we proposed the therapeutic potential of pyruvate therapy for mitochondrial diseases. Leigh syndrome is a progressive neurodegenerative disorder ascribed to either mitochondrial or nuclear DNA mutations.
  
  
  METHODS
  In an attempt to circumvent the mitochondrial dysfunction, we orally applied sodium pyruvate and analyzed its effect on an 11-year-old female with Leigh syndrome due to cytochrome c oxidase deficiency accompanied by cardiomyopathy. The patient was administered sodium pyruvate at a maintenance dose of 0.5 g/kg/day and followed up for 1 year.
  
  
  RESULTS
  The exercise intolerance was remarkably improved so that she became capable of running. Echocardiography indicated improvements both in the left ventricle ejection fraction and in the fractional shortening. Electrocardiography demonstrated amelioration of the inverted T waves. When the pyruvate administration was interrupted because of a gastrointestinal infection, the serum lactate level became elevated and the serum pyruvate level, decreased, suggesting that the pyruvate administration was effective in decreasing the lactate-to-pyruvate ratio.
  
  
  CONCLUSIONS
  These data indicate that pyruvate therapy was effective in improving exercise intolerance at least in a patient with cytochrome c oxidase deficiency.
  
  
  CONCLUSIONS
  Administration of sodium pyruvate may prove effective for other patients with cytochrome c oxidase deficiency due to mitochondrial or nuclear DNA mutations.
authors.affiliation: Department of Pediatric Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nishigaki
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Hiroko
authors.initials: H
authors.lastname: Hosoya
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Wakamoto
authors.forename: Yasutoshi
authors.initials: Y
authors.lastname: Koga
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
mesh_terms: D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000235:genetics / Q000473:pathology; D011773:Pyruvates / Q000627:therapeutic use*
chemical_list: D004272:DNA, Mitochondrial; D011773:Pyruvates; D004247:DNA; D003576:Electron Transport Complex IV