Test Catalog

Test ID: FETCE    
Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

A final report will be attached in Mayo Access.

Clinical Reference Recommendations for in-depth reading of a clinical nature

Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell  Biol, 2007; 80:93-119.

Trounce, I.A., Kim, Y.L., Jun, A.S., Wallace, D.C. Assessment  of mitochondrial oxidative phosphorylation in patients muscle biopsies, lymphoblasts  and transmitochondrial cell lines. Methods Enzymol, 1996. 264, 484-509.

Gellerich, F.N. et al. (2004) The problem of interlab variation in methods mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion 4, (427-439)

Enns,  G.M. et al. (2005) ReIatonship of primary mitochondrial respiratory chain· dysfunction to fiber type abnormalities in skeletal muscle. Clin.  Genet. 66: 337-346. Bernier, FP, Boneh A, Dennett  X, Chow  CW, Cleary MA, Thorburn DR (2002) diagnostic criteria for respiratory chain disorders in adults and children.  Neurology 59, 1406-11.

Walker UA, Collins S, Byrne E (1996) Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 36, 260-267.