Journal of Inherited Metabolic Disease

, Volume 13, Issue 3, pp 355–358 | Cite as

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

  • F. A. Wijburg
  • N. Feller
  • W. Ruitenbeek
  • J. M. F. Trijbels
  • R. C. A. Sengers
  • H. R. Scholte
  • H. Przyrembel
  • R. J. A. Wanders
Short Communication

Keywords

Public Health Internal Medicine Lactate Pyruvate Metabolic Disease 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Fischer, J. C., Ruitenbeek, W., Gabreëls, F. J. M., Janssen, A. J. M., Renier, W. O., Sengers, R. C. A., Stadhouders, A. M., ter Laak, H. J., Trijbels, J. M. F. and Veerkamp, J. H. A. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.Eur. J. Pediatr. 144 (1986) 441–444Google Scholar
  2. Kadenbach, B., Stroh, A., Ungibauer, M., Kuhn-Nentwig, L., Büge, U. and Jarausch, J. Isoenzymes of cytochromec oxidase. Characterization and isolation from different tissues.Methods Enzymol. 126 (1986) 31–45Google Scholar
  3. Millis, A. J. T. and Pious, D. A. Oxidative phosphorylation in mitochondria isolated from human fibroblasts.Biochim. Biophys. Acta 292 (1973) 73–77Google Scholar
  4. Robinson, B. H., Ward, J., Goodyer, P. and Baudet, A. Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.J. Clin. Invest. 77 (1986) 1422–1427Google Scholar
  5. Robinson, B. H., De Meirleir, L., Glerum, M., Sherwood, G. and Becker, L. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to the pathogenesis of Leigh disease.J. Pediatr. 110 (1987) 216–222Google Scholar
  6. Scholte, H. R., Busch, H. F. M., Luyt-Houwen, I. E. M., Vaandrager-Verduin, M. H. M., Przyrembel, H. and Arts, W. F. M. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.J. Inher. Metab. Dis. 10 Suppl. 1 (1987) 81–97Google Scholar
  7. Wijburg, F. A., Feller, N., Scholte, H. R., Przyrembel, H. and Wanders, R. J. A. Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.Biochem. Int. 19 (1989) 563–570Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • F. A. Wijburg
    • 1
  • N. Feller
    • 1
  • W. Ruitenbeek
    • 2
  • J. M. F. Trijbels
    • 2
  • R. C. A. Sengers
    • 2
  • H. R. Scholte
    • 3
  • H. Przyrembel
    • 4
  • R. J. A. Wanders
    • 1
  1. 1.Department of PediatricsUniversity Hospital of Amsterdam (AMC)AmsterdamThe Netherlands
  2. 2.Department of PediatricsUniversity Hospital NijmegenNijmegenThe Netherlands
  3. 3.Biochemistry IErasmus UniversityRotterdamThe Netherlands
  4. 4.Department of PediatricsUniversity Children's HospitalRotterdamThe Netherlands

Personalised recommendations