Brain and Development
Volume 34, Issue 2 , Pages 92-97 , February 2012

Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system

  • Keitaro Yamada

      Affiliations

    • Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    • Corresponding Author InformationCorresponding author. Address: Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. Tel.: +81 725 56 1220; fax: +81 725 56 5682.
    • ,
  • Yasuhisa Toribe

      Affiliations

    • Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    • ,
  • Keiko Yanagihara

      Affiliations

    • Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    • ,
  • Toshiyuki Mano

      Affiliations

    • Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    • ,
  • Mikihiro Akagi

      Affiliations

    • Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
    • ,
  • Yasuhiro Suzuki

      Affiliations

    • Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan

Received 8 May 2011 ,Revised 26 July 2011 ,Accepted 6 August 2011.

References 

  1. Chariot P, Ratiney R, Ammi-Said M, Hérigault R, Adnot S, Gherardi R. Optimal handling of blood samples for routine measurement of lactate and pyruvate. Arch Pathol Lab Med. 1994;118:695–697
  2. Hutchesson A, Preece MA, Gray G, Green A. Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Clin Chem. 1997;43:158–161
  3. Touati G, Rigal O, Lombès A, Frachon P, Giraud M, Ogier de Baulny H. In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child. 1997;76:16–21
  4. Finsterer J. Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy. Acta Med Austriaca. 2001;28:152–155
  5. Chow SL, Rooney ZJ, Cleary MA, Clayton PT, Leonard JV. The significance of elevated CSF lactate. Arch Dis Child. 2005;90:1188–1189
  6. Stacpoole PW, Bunch ST, Neiberger RE, Perkins LA, Quisling R, Hutson AD, et al. The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis. J Pediatr. 1999;134:99–102
  7. Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics. 2007;119:722–733
  8. Jackson MJ, Schaefer JA, Johnson MA, Morris AA, Turnbull DM, Bindoff LA. Presentation and clinical investigation of mitochondrial respiratory chain disease; a study of 51 patients. Brain. 1995;118:339–357
  9. Hanley JA, McNeil BJ. The meaning and use of the area under a receiver operating characteristic curve. Radiology. 1982;143:29–36
  10. Metz CE. Basic principles of ROC curve analysis. Semin Nucl Med. 1978;8:283–298
  11. Altman DG, Gardner M. Diagnostics tests. 2nd ed. London: BMJ Book; 2000;
  12. Matsuishi T, Urabe F, Komori H, Yamashita Y, Naito E, Kuroda Y, et al. The Rett syndrome and CSF lactic acid patterns. Brain Dev. 1992;14:68–70
  13. Debray FG, Mitchell GA, Allard P, Robinson RH, Hanley JA, Lambert M. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem. 2007;53:916–921
  14. Posner JB, Plum F. Independence of blood and cerebrospinal fluid lactate. Arch Neurol. 1967;16:492–496
  15. Smeitink JA. Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J Inherit Metab Dis. 2003;26:199–207

PII: S0387-7604(11)00213-0

doi: 10.1016/j.braindev.2011.08.004

Brain and Development
Volume 34, Issue 2 , Pages 92-97 , February 2012

Article Tools

* Image Usage & Resolution