Efficacy of pyruvate therapy in patients with mitochondrial disease: A semi-quantitative clinical evaluation study

Molecular Genetics and Metabolism

Volumn 112, Issue 2, 2014, Pages 133-138

  Fujii, Tatsuya ^a   Nozaki, Fumihito ^a   Saito, Keiko ^a,e   Hayashi, Anri ^a   Nishigaki, Yutaka ^b,f   Murayama, Kei ^c   Tanaka, Masashi ^b   Koga, Yasutoshi ^d   Hiejima, Ikuko ^a   Kumada, Tomohiro ^a  

^a SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d Kurume University Graduate School of Medicine Kurume University Graduate School of Medicine Graduate School Biostatistics   (Japan)

^e KYOTO UNIVERSITY   (Japan)

^f Nishigaki Clinic and oResearch Laboratory   (Japan)

Author keywords

Lactate to pyruvate ratio; Mitochondrial disease; Pyruvate; Therapy

Indexed keywords

LACTIC ACID; PYRUVATE SODIUM; PYRUVIC ACID;

ARTICLE; CASE REPORT; CHILD; CLINICAL EVALUATION; DIARRHEA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG EFFICACY; ENCEPHALOMYOPATHY; FEMALE; GLYCOLYSIS; GROSS MOTOR FUNCTION MEASURE; HUMAN; IMMOBILITY; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT DURATION; BLOOD; DRUG ADMINISTRATION; DRUG EFFECTS; GENETICS; INFANT; MITOCHONDRIAL DISEASES; PATHOLOGY; TREATMENT OUTCOME;

CHILD; DRUG ADMINISTRATION SCHEDULE; FEMALE; GLYCOLYSIS; HUMANS; INFANT; LACTIC ACID; MALE; MITOCHONDRIAL DISEASES; PYRUVIC ACID; TREATMENT OUTCOME;

EID: 84901601205     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.04.008     Document Type: Article

References (16)

1. Tanaka M., Nishigaki Y., Fuku N., Ibi T., Sahashi K., Koga Y. Therapeutic potential of pyruvate therapy for mitochondrial diseases. Mitochondrion 2007, 7:399-401.
2. Komaki H., Nishigaki Y., Fuku N., Hosoya H., Murayama K., Ohtake A., Goto Y., Wakamoto H., Koga Y., Tanaka M. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. Biochim. Biophys. Acta 2010, 1800:313-315.
3. Saito K., Kimura N., Oda N., Shimomura H., Kumada T., Miyajima T., Murayama K., Tanaka M., Fujii T. Pyruvate therapy for mitochondrial DNA depletion syndrome. Biochim. Biophys. Acta 2012, 1820:632-636.
4. Koga Y., Povalko N., Katayama K., Kakimoto N., Matsuishi T., Naito E., Tanaka M. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1alpha gene. Brain Dev. 2012, 34:87-91.
5. Phoenix C., Schaefer A.M., Elson J.L., Morava E., Bugiani M., Uziel G., Smeitink J.A., Turnbull D.M., McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul. Disord. 2006, 16:814-820.
6. Alotaibi M., Long T., Kennedy E., Bavishi S. The efficacy of GMFM-88 and GMFM-66 to detect changes in gross motor function in children with cerebral palsy (CP): a literature review. Disabil. Rehabil. 2014, 36:617-627.
7. Yatsuga S., Povalko N., Nishioka J., Katayama K., Kakimoto N., Matsuishi T., Kakuma T., Koga Y., M.S.G.i.J.Taro Matsuoka for MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim. Biophys. Acta 2012, 1820:619-624.
8. Chinnery P.F., Bindoff L.A. 116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, the Netherlands. Neuromuscul. Disord. 2003, 13:757-764.
9. Morava E., van den Heuvel L., Hol F., de Vries M.C., Hogeveen M., Rodenburg R.J., Smeitink J.A. Mitochondrial disease criteria: diagnostic applications in children. Neurology 2006, 67:1823-1826.
10. Linder-Lucht M., Othmer V., Walther M., Vry J., Michaelis U., Stein S., Weissenmayer H., Korinthenberg R., Mall V. Gross motor function measure-traumatic brain injury study, Validation of the gross motor function measure for use in children and adolescents with traumatic brain injuries. Pediatrics 2007, 120:e880-e886.
11. Nelson L., Owens H., Hynan L.S., Iannaccone S.T., Am S.G. The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul. Disord. 2006, 16:374-380.
12. Russell D., Palisano R., Walter S., Rosenbaum P., Gemus M., Gowland C., Galuppi B., Lane M. Evaluating motor function in children with Down syndrome: validity of the GMFM. Dev. Med. Child Neurol. 1998, 40:693-701.
13. Iyer L.V., Haley S.M., Watkins M.P., Dumas H.M. Establishing minimal clinically important differences for scores on the pediatric evaluation of disability inventory for inpatient rehabilitation. Phys. Ther. 2003, 83:888-898.
14. Msall M.E., DiGaudio K., Rogers B.T., LaForest S., Catanzaro N.L., Campbell J., Wilczenski F., Duffy L.C. The Functional Independence Measure for Children (WeeFIM): conceptual basis and pilot use in children with developmental disabilities. Clin. Pediatr. 1994, 33:421-430.
15. Kami K., Fujita Y., Igarashi S., Koike S., Sugawara S., Ikeda S., Sato N., Ito M., Tanaka M., Tomita M., Soga T. Metabolomic profiling rationalized pyruvate efficacy in cybrid cells harboring MELAS mitochondrial DNA mutations. Mitochondrion 2012, 12:644-653.
16. Suomalainen A., Elo J.M., Pietilainen K.H., Hakonen A.H., Sevastianova K., Korpela M., Isohanni P., Marjavaara S.K., Tyni T., Kiuru-Enari S., Pihko H., Darin N., Ounap K., Kluijtmans L.A., Paetau A., Buzkova J., Bindoff L.A., Annunen-Rasila J., Uusimaa J., Rissanen A., Yki-Jarvinen H., Hirano M., Tulinius M., Smeitink J., Tyynismaa H. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol. 2011, 10:806-818.