title: Pyruvate therapy for mitochondrial DNA depletion syndrome.
abstract: BACKGROUND
  Mitochondrial DNA depletion syndromes are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. Sodium pyruvate has been reported to have a therapeutic effect in mitochondrial diseases.
  
  
  METHODS
  We analyzed the effects of 0.5g/kg of sodium pyruvate administered through a nasogastric tube in a one-year-old patient with myopathic mitochondrial DNA depletion syndrome. To evaluate the improvement, we used the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and manual muscle testing. As the improvement of motor functions in this severely disabled infant could not be comprehensively detected by NPMDS, we also observed the infant's ability to perform several tasks such as pouting, winking, and number of times she could tap a toy xylophone with a stick. Blood lactate and pyruvate levels were also monitored.
  
  
  RESULTS
  After one month's treatment, the NPMDS score in section IV, the domain for the quality of life, improved from 17 to13. The infant became capable of raising her forearm, lower leg and wrist against gravity. The maximum number of times she could repeat each task increased and the movements became brisker and stronger. No significant change of the blood lactate level or lactate-to-pyruvate ratio, both of which were mildly increased at the initiation of the therapy, was observed despite the clinical improvement.
  
  
  CONCLUSIONS
  Sodium pyruvate administered at 0.5g/kg improved the muscle strength and the NPMDS score of an infant with myopathic mitochondrial DNA depletion syndrome.
  
  
  CONCLUSIONS
  Sodium pyruvate may be effective for ameliorating the clinical manifestations of mitochondrial diseases. This article is part of a Special Issue entitled: Biochemistry of Mitochondria.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Shiga, Japan. ksaitou-kyt@umin.ac.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Saito
authors.forename: Nobusuke
authors.initials: N
authors.lastname: Kimura
authors.forename: Nozomi
authors.initials: N
authors.lastname: Oda
authors.forename: Hideki
authors.initials: H
authors.lastname: Shimomura
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyajima
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000378:metabolism; D019289:Pyruvic Acid / Q000627:therapeutic use*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial; D019289:Pyruvic Acid