Abstract
We report that measurement of whole-blood palmitate oxidation is a rapid and inexpensive screening test for fatty acid oxidation defects. The assay has been adapted from published assays using cultured fibroblasts or isolated white blood cells. Micro whole-blood samples are incubated with tritiated palmitic acid as substrate. The tritiated water produced is proportional to the mitochondrial β-oxidation of palmitic acid. Patients with confirmed β-oxidation defects show low whole-blood palmitate oxidation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Brivet M, Slama A, Saudubray J-M, Legrand A, Lemonnier A (1995) Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32: 154-159.
Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.
Moon A, Rhead WJ (1987) Complementation analysis of fatty acid oxidation disorders. J Clin Invest 79: 59-64.
Nyhan WL (1995) Diagnosing disorders of fatty acid oxidation. Clin Chem 41: 10-11.
Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ (1992) Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic acid and [9,10-3H]palmitic acids by intact cultured fibroblasts. J Inher Metab Dis 15: 883-890.
Pollitt RJ (1995) Disorders of mitochondrial long-chain fatty acid oxidation. J Inher Metab Dis 18: 473-490.
Pourfarzam M, Schaefer J, Turnbull DM, Bartlett K (1994) Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders. Clin Chem 40: 2267-2275.
Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1501-1533.
Schaefer J, Pourfarzam M, Bartlett K, Jackson S, Turnbull DM (1995) Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation. Pediatr Res 37: 354-360.
Stanley CA, Lieu YK, Hsu BYL, et al (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338: 1352-1357.
Venizelos N, von Dobeln U, Hagenfeldt L (1998) Fatty acid oxidation in fibroblast from patients with defects in β-oxidation and in the respiratory chain. J Inher Metab Dis 21: 409-415.
Wanders RJA, Ijlst L (1992) Fatty acid b-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients. Biochim Biophys Acta 1138: 80-84.
Wanders RJA, Ijlst L, Van Elk E, De Klerk JBC, Pryzrembel H (1991) Octanoate and palmitate β-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid β-oxidation disorders. J Inher Metab Dis 14: 317-320.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Seargeant, L.E., Balachandra, K., Mallory, C. et al. A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation. J Inherit Metab Dis 22, 740–746 (1999). https://doi.org/10.1023/A:1005500318194
Issue Date:
DOI: https://doi.org/10.1023/A:1005500318194