Author(s):
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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
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Subject:
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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 Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc |
Organization:
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Paediatrics - OUD tm 2017 Laboratory of Genetic, Endocrine and Metabolic Diseases Radboudumc Extern |
Abstract:
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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.
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