European Journal of Pediatrics

, Volume 144, Issue 5, pp 441–444 | Cite as

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

  • J. C. Fischer
  • W. Ruitenbeek
  • F. J. M. Gabreëls
  • A. J. M. Janssen
  • W. O. Renier
  • R. C. A. Sengers
  • A. M. Stadhouders
  • H. J. ter Laak
  • J. M. F. Trijbels
  • J. H. Veerkamp
Original Investigations


A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.

Key words

Myopathy Convulsions Mitochondria Respiratory chain Coenzyme Q 





computed tomography


cerebrospinal fluid


P′, P5-di(adenosine-5′-)pantaphosphate


bovine serum albumin


carnitine palmitoyltransferase


succinate: cytochrome c oxidoreductase


succinate:coenzyme Q oxidoreductase


2,6-dichlorophenol indophenol


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Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • J. C. Fischer
    • 1
  • W. Ruitenbeek
    • 1
  • F. J. M. Gabreëls
    • 2
  • A. J. M. Janssen
    • 1
  • W. O. Renier
    • 2
  • R. C. A. Sengers
    • 1
  • A. M. Stadhouders
    • 3
  • H. J. ter Laak
    • 2
  • J. M. F. Trijbels
    • 1
  • J. H. Veerkamp
    • 4
  1. 1.Department of PediatricsUniversity of NijmegenNijmegenThe Netherlands
  2. 2.Department of NeurologyCatholic University of NijmegenNijmegenThe Netherlands
  3. 3.Department of Submicroscopic MorphologyCatholic University of NijmegenNijmegenThe Netherlands
  4. 4.Department of BiochemistryCatholic University of NijmegenNijmegenThe Netherlands

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