Skip to main content
Log in

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with leigh syndrome: Implications for the diagnosis of inborn errors of the respiratory chain

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Bolhuis, P. A., De Zwart, H. J. D., Ponne, N. J. and De Jong, J. M. B. V. Free energy carriers in human cultured muscle cells.Muscle and Nerve 8 (1985) 22–26

    PubMed  Google Scholar 

  • 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 mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.Eur. J. Pediatr. 144 (1986) 441–444

    PubMed  Google Scholar 

  • Lomax, M. I., Coucouvanis, E., Schon, E. A. and Barald, K. F. Differential expression of nuclear genes for cytochromec oxidase during myogenesis.Muscle and Nerve 13 (1990) 330–337

    PubMed  Google Scholar 

  • Nonaka, I., Koga, Y., Okino, E., Kikuchi, A., Fujisawa, K. and Miyabayashi, S. Defects in muscle fiber growth in fatal infantile cytochromec oxidase deficiency.Brain Dev. 10 (1988) 223–230

    PubMed  Google Scholar 

  • Robinson, B. H. Lactic acidemia. In Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.)The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989, pp. 869–888

    Google Scholar 

  • Sperl, W., Ruitenbeek, W., Trijbels, J. M. F., Korenke, G. C. and Sengers, R. C. A. Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.J. Inher. Metab. Dis. 13 (1990) 359–362

    PubMed  Google Scholar 

  • Van Erven, P. M. M., Gabreëls, F. J. M., Wevers, R. A., Doesburg, W. H., Ruitenbeek, W., Renier, W. O. and Lamers, K. J. B. Intravenous pyruvate loading test in Leigh syndrome.J. Neurol. Sci. 77 (1987) 217–227

    PubMed  Google Scholar 

  • 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 the detection of respiratory chain defects.Biochem. Int. 19 (1989) 563–570

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wijburg, F.A., Wanders, R.J.A., van Lie Peters, E.M. et al. NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with leigh syndrome: Implications for the diagnosis of inborn errors of the respiratory chain. J Inherit Metab Dis 14, 297–300 (1991). https://doi.org/10.1007/BF01811686

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01811686

Keywords

Navigation