Summary
The measurement of acyl-CoA dehydrogenase activity is an essential part of the investigation of patients with suspected defects of fatty acid oxidation, and recently the organometallic oxidant ferricenium hexafluorophosphate has been introduced as an electron acceptor for these assays. However, we show that when medium-chain acyl-CoA dehydrogenase activity was measured in cultured skin fibroblasts and platelets from patients with proven defects of this enzyme, there was considerable residual enzyme activity when this electron acceptor was used. The ferricenium assay is not as specific as the anaerobic ETF-linked assay in the biochemical diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts, and therefore is of limited clinical applicability in its present form.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bartlett K, Aynsley-Green A, Leonard JV, Turnbull DM (1991) Inherited disorders of mitochondrialβ-oxidation. In Schob J, Van Hoof F, Vis HL, eds.Nestlé Nutrition Workshop Series, vol. 24,Inborn Errors of Metabolism. New York: Vevey/Raven Press, 19–40.
Editorial (1991) Medium-chain acyl-CoA dehydrogenase deficiency.Lancet 338: 544–545.
Finocchiaro G, Ito M, Tanaka K (1987) Purification and properties of short-chain acyl-CoA, medium-chain acyl-CoA and isovaleryl-CoA dehydrogenases from human liver.J Biol Chem 262: 7982–7989.
Frerman FE, Goodman SI (1985) Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.Biochem Med 33: 38–44.
Kelly DP, Whelan AJ, Ogden M et al (1990) Molecular characterisation of inherited medium-chain acyl-CoA dehydrogenase deficiency.Proc Natl Acad Sci USA 87: 9236–9240.
Lehman TC, Hale DE, Bhala A, Thorpe C (1990) An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion.Anal Biochem 186: 280–284.
Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM (1990) Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.Lancet 335: 1589.
Matsubara Y, Narisawa K, Tada K et al (1991) Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.Lancet 338: 552–553.
Mustard JF, Kinlough-Rathbone RL, Packham MA (1989) Isolation of human platelets from plasma by centrifugation and washing.Methods Enzymol 169: 3–11.
Ogilvie I, Jackson S, Bartlett K, Turnbull DM (1991) Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.Biochem Med Metab Biol 46:373–379.
Roe CR, Coates PM (1989) Acyl-CoA dehydrogenase deficiencies. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease. New York: McGraw Hill, 889–914.
Turnbull DM, Bartlett K, Stevens DL et al (1984) Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.N Engl J Med 311: 1232–1236.
Vianey-Liaud C, Divry P, Gregersen N, Matthieu M (1987) The inborn errors of mitochondrial fatty acid oxidation.J Inher Metab Dis 10: (Suppl 1) 159–198.
Yokota I, Indo Y, Coates PM, Tanaka K (1990) Molecular basis of medium-chain acyl-coenzyme A dehydrogenase deficiency.J Clin Invest 86: 1000–1003.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Taylor, R.W., Jackson, S., Pourfarzam, M. et al. Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets. J Inherit Metab Dis 15, 727–732 (1992). https://doi.org/10.1007/BF01800014
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800014