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

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Title:	A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
Author(s):	Rodenburg, R.J.T. ; Schoonderwoerd, G.C.; Tiranti, V.; Taylor, R.W.; Rotig, A.; Valente, L.; Invernizzi, F.; Chretien, D.; He, L.; Backx, G.P.; Janssen, K.J.; Chinnery, P.F.; Smeets, H.J.M. ; Coo, I.F. de; Heuvel, L.P. van den
Publication year:	2013
Source:	Mitochondrion, vol. 13, iss. 1, (2013), pp. 36-43
ISSN:	1567-7249
DOI:	https://doi.org/10.1016/j.mito.2012.11.004
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/118214
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Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 4: Energy and redox metabolism IGMD 8: Mitochondrial medicine IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism IGMD 9: Renal disorder NCMLS 5: Membrane transport and intracellular motility
Organization:	Paediatrics Laboratory of Genetic, Endocrine and Metabolic Diseases Radboudumc Extern
Journal title:	Mitochondrion
Volume:	vol. 13
Issue:	iss. 1
Page start:	p. 36
Page end:	p. 43
Abstract:	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.