A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

R. J. T. Rodenburg*, G. C. Schoonderwoerd, V. Tiranti, R. W. Taylor, A. Roetig, L. Valente, F. Invernizzi, D. Chretien, L. He, G. P. B. M. Backx, K. J. G. M. Janssen, P. F. Chinnery, H. J. Smeets, I. F. de Coo, L. P. van den Heuvel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Web of Science)


A multicenter comparison of mitochondrial respiratory chain and complex V enzyme activity tests was performed. The average reproducibility of the enzyme assays is 16% in human muscle samples. In a blinded diagnostic accuracy test in patient fibroblasts and SURF1 knock-out mouse muscle, each lab made the correct diagnosis except for two complex I results. We recommend that enzyme activities be evaluated based on ratios, e.g. with complex IV or citrate synthase activity. In spite of large variations in observed enzyme activities, we show that inter-laboratory comparison of patient sample test results is possible by using normalization against a control sample.
Original languageEnglish
Pages (from-to)36-43
Issue number1
Publication statusPublished - Jan 2013


  • Respiratory chain
  • Diagnosis
  • Enzyme activity
  • Mitochondrial disease
  • Muscle
  • Fibroblasts

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