Backx GPBM

Chinnery PF

Chretien D

De Coo IF

He L

Invernizzi F

Janssen KJGM

Rodenburg RJT

Rotig A

Schoonderwoerd GC

Smeets HJ

Taylor RW

Tiranti V

Valente L

van den Heuvel LP

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. (c) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved

Newcastle University E-Prints

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

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

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