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European Journal of Pediatrics

, Volume 148, Issue 7, pp 656–659 | Cite as

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

  • J. A. M. Smeitink
  • R. C. A. Sengers
  • J. M. F. Trijbels
  • W. Ruitenbeek
  • O. Daniëls
  • A. M. Stadhouders
  • M. J. H. Kock-Jansen
Metabolic Diseases Original Papers

Abstract

Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days, respectively from cardiorespiratory failure. Mitochondrial abnormalities were observed in the heart and skeletal muscle. Despite the presence of a severe lactic acidaemia pointing to a disturbed pyruvate oxidation rate in vivo, a normal pyruvate oxidation rate was demonstrated in skeletal muscle homogenates. The activities of several enzymes of the mitochondrial respiratory chain appeared to be normal, indicating an intact respiratory chain. A myoglobinopenia could be excluded. The activities of some mitochondrial enzymes and the concentration of myoglobin increase with age.

Key words

Neonate Cardiomyopathy Cataract Mitochondrial myopathy 

Abbreviations

ATP

adenosine triphosphate

CrP

creatine phosphate

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Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • J. A. M. Smeitink
    • 1
  • R. C. A. Sengers
    • 1
  • J. M. F. Trijbels
    • 1
  • W. Ruitenbeek
    • 1
  • O. Daniëls
    • 1
  • A. M. Stadhouders
    • 2
  • M. J. H. Kock-Jansen
    • 1
  1. 1.Institute of PaediatricsUniversity of NijmegenNijmegenThe Netherlands
  2. 2.Institute of Submicroscopic MorphologyUniversity of NijmegenNijmegenThe Netherlands

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