Ute Spiekerkoetter


Affiliation: Heinrich Heine University
Country: Germany


  1. Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis. 2010;33:527-32 pubmed publisher
    ..However, later-onset exercise-induced myopathic symptoms remain characteristic clinical features of long-chain fatty acid oxidation defects. Disease prevalence has increased with newborn screening. ..
  2. Spiekerkoetter U, Bastin J, GILLINGHAM M, Morris A, Wijburg F, Wilcken B. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33:555-61 pubmed publisher
    ..With increasing pathophysiological knowledge, new treatment options have been identified and are being clinically evaluated. These include the use of bezafibrates in myopathic long-chain defects. ..
  3. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009;32:488-97 pubmed publisher
    ..In summary, in this cohort the treatment regimen was adapted to the severity of the underlying enzyme defect and thus differed among the group of long-chain FAO defects. ..
  4. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009;32:498-505 pubmed publisher
    ..On the basis of the collected data, recommendations are given with regard to the fat and carbohydrate content of the diet, the maximal length of fasting periods and the use of l-carnitine in long-chain fatty acid oxidation defects. ..
  5. Spiekerkoetter U, Khuchua Z, Yue Z, Bennett M, Strauss A. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res. 2004;55:190-6 pubmed
    ..Both alpha- and beta-subunit mutations result in TFP complex instability, demonstrating that the mechanism of disease is the same in alpha- or beta-mutation-derived disease and explaining the biochemical and clinical similarities. ..
  6. Spiekerkoetter U, Bennett M, Ben Zeev B, Strauss A, Tein I. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve. 2004;29:66-72 pubmed
    ..Therefore, this disorder must be considered in the differential diagnosis of progressive peripheral neuropathy with or without episodic myoglobinuria...
  7. Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Exil V, Duran M, et al. Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest. 2004;34:191-6 pubmed
    ..Monitoring blood acylcarnitine profiles in response to different stressors may allow systematic analysis of therapeutic interventions in VLCAD knockout mice. ..
  8. Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, IJlst L, Vaz F, et al. Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res. 2005;57:760-4 pubmed
    ..Our data suggest that carnitine supplementation in long-chain beta-oxidation defects may not be required, and blood carnitine concentrations do not reflect tissue carnitine homeostasis. ..
  9. Spiekerkoetter U, Ruiter J, Tokunaga C, Wendel U, Mayatepek E, Wijburg F, et al. Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. Horm Metab Res. 2006;38:625-30 pubmed
    ..Whether this is due to lack of a substrate, inhibitory effects on other gluconeogenic enzymes or impaired transcription of gluconeogenic enzymes needs to be resolved in the future. ..

More Information


  1. Spiekerkoetter U. Effects of a fat load and exercise on asymptomatic VLCAD deficiency. J Inherit Metab Dis. 2007;30:405 pubmed
    ..In asymptomatic mild VLCADD, a fat-reduced diet may not be necessary, whereas in later infancy and adolescence, strenuous physical exercise may require additional energy from medium-chain fat. ..
  2. Spiekerkoetter U, Wood P. Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models. J Inherit Metab Dis. 2010;33:539-46 pubmed publisher
    ..In summary, knowledge about the different pathogenetic mechanisms and the resulting pathophysiology allows the development of specific new therapies. ..