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Journal of Inherited Metabolic Disease

, Volume 29, Issue 1, pp 212–213 | Cite as

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

  • M. J. H. Coenen
  • J. A. M. Smeitink
  • M. H. Farhoud
  • L. G. J. Nijtmans
  • R. Rodenburg
  • A. Janssen
  • E. P. M. van Kaauwen
  • F. J. M. Trijbels
  • L. P. van den Heuvel
Short Report

Summary

Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.

Keywords

Public Health Internal Medicine Metabolic Disease Oxidative Phosphorylation Progress Report 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Cooperstein SJ, Lazarow A (1951) A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 189: 665–670.PubMedGoogle Scholar
  2. Willems JL, Monnens LA, Trijbels JM, et al (1977) Leigh encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 60: 850–857.PubMedGoogle Scholar
  3. Yao J, Shoubridge EA (1999) Expression and functional analysis of surf1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet 8: 2541–2549.CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • M. J. H. Coenen
    • 1
  • J. A. M. Smeitink
    • 1
  • M. H. Farhoud
    • 1
  • L. G. J. Nijtmans
    • 1
  • R. Rodenburg
    • 1
  • A. Janssen
    • 1
  • E. P. M. van Kaauwen
    • 1
  • F. J. M. Trijbels
    • 1
  • L. P. van den Heuvel
    • 1
  1. 1.Nijmegen Centre for Mitochondrial DisorderRadboud University Nijmegen Medical CentreThe Netherlands

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