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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

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Abstract

Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an incorrect diagnosis. Patients selection is of crucial importance. Metabolic examination of body fluids, particularly with respect to lactate accumulation, is used as a selection criterion for further examinations. Numerous aspects associated with this metabolic examination have been critically evaluated, including the phenomenon of other causes of lactic acidaemia apart from mitochondrial disorders. Correct performance of in vivo function tests may contribute to a reduction of the number of missed diagnoses. Selection of the controls for biochemical investigations must be accurately be performed to obtain reliable reference values. Knowledge of the age-dependancy of the biochemical parameters is necessary for a correct interpretation. It goes without saying that the choice of the tissue for biochemical investigations is of utmost importance. Knowledge of the tissue-specific occurrence of some defects in the mitochondrial respiratory chain is necessary. The biochemical examinations can be performed both in biopsy and autopsy material but only under certain conditions. Diagnostic approach requires application of reliable biochemical methods which are described. One of the most intriguing aspects in the diagnosis of mitochondrial disorders is the significance of a defect in relation to the residual enzyme activity found in the patient. Moreover, attention is paid to relevant items such as the occurrence of multiple and secondary defects. It may be concluded that there are many reasons for an incorrect diagnosis of a mitochondrial myopathy. Knowledge of these features is necessary to avoid diagnostic errors.

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Authors and Affiliations

  1. Department of Paediatrics, University Hospital of Nijmegen, P.O. Box 9101, NL-6500 HB, Nijmegen, The Netherlands

    J. M. F. Trijbels, W. Ruitenbeek, R. C. A. Sengers & A. J. M. Janssen

  2. Department of Biochemistry I, Erasmus University, Rotterdam, The Netherlands

    H. R. Scholte

  3. Department of Neurology, Erasmus University, Rotterdam, The Netherlands

    H. F. M. Busch

Authors
  1. J. M. F. Trijbels
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  2. H. R. Scholte
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  3. W. Ruitenbeek
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  4. R. C. A. Sengers
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  5. A. J. M. Janssen
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  6. H. F. M. Busch
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Trijbels, J.M.F., Scholte, H.R., Ruitenbeek, W. et al. Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies. Eur J Pediatr 152, 178–184 (1993). https://doi.org/10.1007/BF01956139

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  • DOI: https://doi.org/10.1007/BF01956139

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