Journal of Inherited Metabolic Disease

, Volume 26, Issue 6, pp 593–600 | Cite as

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene

  • O. Grafakou
  • F. A. Hol
  • K. Otfried Schwab
  • M. H. Siers
  • H. Ter Laak
  • F. Trijbels
  • R. Ensenauer
  • C. Boelen
  • J. Smeitink
Article

Abstract

A 13-year-old girl with non-familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged-red fibres and 80% COX-negative staining. Enzymatic activities of mitochondrially co-encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle-only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.

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Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • O. Grafakou
    • 1
  • F. A. Hol
    • 2
  • K. Otfried Schwab
    • 3
  • M. H. Siers
    • 2
  • H. Ter Laak
    • 4
  • F. Trijbels
    • 5
  • R. Ensenauer
    • 3
  • C. Boelen
    • 1
  • J. Smeitink
    • 1
    • 6
  1. 1.Department of Pediatrics, Nijmegen Center for Mitochondrial DisordersUniversity Medical Center NijmegenThe Netherlands
  2. 2.Department of Human Genetics, Nijmegen Center for Mitochondrial DisordersUniversity Medical Center NijmegenThe Netherlands
  3. 3.University Children's ClinicFreibourgGermany
  4. 4.Department of Pathology, Nijmegen Center for Mitochondrial DisordersUniversity Medical Center NijmegenThe Netherlands
  5. 5.Laboratory of Pediatrics and Neurology, Nijmegen Center for Mitochondrial DisordersUniversity Medical Center NijmegenThe Netherlands
  6. 6.Nijmegen Center for Mitochondrial Disorders, Department of PediatricsUniversity Medical Center NijmegenNijmegenThe Netherlands

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