Ute Spiekerkoetter

Summary

Affiliation: Heinrich Heine University
Country: Germany

Publications

  1. ncbi Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
    Ute Spiekerkoetter
    Department of Pediatrics and Vanderbilt Children s Hospital, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Hum Mutat 21:598-607. 2003
  2. doi Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:498-505. 2009
  3. doi Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225 Duesseldorf, Germany
    Mol Genet Metab 94:428-30. 2008
  4. doi Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:527-32. 2010
  5. ncbi Effects of a fat load and exercise on asymptomatic VLCAD deficiency
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225, Duesseldorf, Germany
    J Inherit Metab Dis 30:405. 2007
  6. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
  7. pmc Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:539-46. 2010
  8. ncbi Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, 40225 Dusseldorf, Germany
    Pediatr Res 57:760-4. 2005
  9. ncbi The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement
    U Spierkerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 27:294-6. 2004
  10. ncbi Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress
    U Spiekerkoetter
    University Children s Hospital, Dusseldorf, Germany
    Eur J Clin Invest 34:191-6. 2004

Detail Information

Publications40

  1. ncbi Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
    Ute Spiekerkoetter
    Department of Pediatrics and Vanderbilt Children s Hospital, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Hum Mutat 21:598-607. 2003
    ..The degree of reduction in thiolase antigen also correlated with the severity of clinical presentation. Although TFP deficiency is highly heterogeneous, there is genotype-phenotype correlation...
  2. doi Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:498-505. 2009
    ..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...
  3. doi Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225 Duesseldorf, Germany
    Mol Genet Metab 94:428-30. 2008
    ..Severe cardiac mitochondrial proliferation in TFP deficiency suggests pathophysiologically relevant energy deficiency in this condition...
  4. doi Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:527-32. 2010
    ..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...
  5. ncbi Effects of a fat load and exercise on asymptomatic VLCAD deficiency
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, 40225, Duesseldorf, Germany
    J Inherit Metab Dis 30:405. 2007
    ..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...
  6. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
    ..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...
  7. pmc Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:539-46. 2010
    ..In summary, knowledge about the different pathogenetic mechanisms and the resulting pathophysiology allows the development of specific new therapies...
  8. ncbi Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, 40225 Dusseldorf, Germany
    Pediatr Res 57:760-4. 2005
    ..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. ncbi The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement
    U Spierkerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 27:294-6. 2004
    ..The predominant cardiac manifestation of severe TFP deficiency reflects its essential role in myocardial energetics, not its tissue-specific expression...
  10. ncbi Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress
    U Spiekerkoetter
    University Children s Hospital, Dusseldorf, Germany
    Eur J Clin Invest 34:191-6. 2004
    ..In this paper we have used the VLCAD knockout mouse as a model to study changes in blood carnitine and acylcarnitine profiles under stress...
  11. ncbi Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein
    Ute Spiekerkoetter
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    Muscle Nerve 29:66-72. 2004
    ..Therefore, this disorder must be considered in the differential diagnosis of progressive peripheral neuropathy with or without episodic myoglobinuria...
  12. ncbi 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
    Ute Spiekerkoetter
    Department of Pediatrics and Vanderbilt Children s Hospital, Nashville, TN 37232, USA
    Pediatr Res 55:190-6. 2004
    ..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...
  13. doi Current issues regarding treatment of mitochondrial fatty acid oxidation disorders
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:555-61. 2010
    ..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...
  14. doi Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    J Inherit Metab Dis 32:488-97. 2009
    ..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...
  15. ncbi Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels
    Michaela Liebig
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Pediatrics 118:1065-9. 2006
    ..Mildly elevated C14:1-carnitine on day 3 of life strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency...
  16. pmc Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation
    Sara Tucci
    Department of General Pediatrics and Neonatology, University Childrens Hospital, Duesseldorf, Germany
    PLoS ONE 7:e45429. 2012
    ..In the muscle, there is evidence of a muscle fibre type adaptation with a predominance of glycolytic muscle fibres. Dietary modification as represented by an MCT-diet does not improve these strategies long-term...
  17. doi Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice
    Sara Tucci
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    FEBS J 277:4699-708. 2010
    ..An MCT diet does not prevent hepatic damage during catabolism and metabolic derangement...
  18. doi Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    Mol Genet Metab 104:546-51. 2011
    ..Dietary fat plays a crucial role in disease pathogenesis and fat restriction is a common treatment measure. We here investigate the hepatic and muscular effects of a fat-enriched and a fat-restricted diet...
  19. doi Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Duesseldorf D 40225, Germany
    Pediatr Res 63:632-7. 2008
    ..The principle mechanism regulating carnitine homeostasis seems to be endogenous carnitine biosynthesis, also under conditions with increased demand of carnitine such as in VLCAD-deficiency...
  20. pmc Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants
    Marga Sturm
    Department of General Pediatrics, University Childrens Hospital, Dusseldorf, Germany
    PLoS ONE 7:e45110. 2012
    ..The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and the identification of new ACADM genotypes associated with asymptomatic disease variants...
  21. doi Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC
    Eva Thimm
    Department of General Pediatrics, Medical Faculty, University Düsseldorf, Moorenstrasse 5, 40225, Dusseldorf, Germany
    J Inherit Metab Dis 35:263-8. 2012
    ..However, there are first reports of cognitive impairment in patients with elevated plasma tyrosine concentrations...
  22. doi Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, Duesseldorf, Germany
    J Inherit Metab Dis 33:237-46. 2010
    ..In contrast, continuous MCT treatment produces a higher skeletal muscle content of long-chain acylcarnitines after exercise and increases hepatic lipid storage in VLCAD KO mice...
  23. doi Long-term dietary effects on substrate selection and muscle fiber type in very-long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice
    Sara Tucci
    Department of General Pediatrics, University Hospital Freiburg, Germany
    Biochim Biophys Acta 1832:509-16. 2013
    ..In particular, the low-fat carbohydrate-enriched diet was not effective in the long term. Further experiments are necessary to define the optimal energy provision for fatty acid oxidation defects...
  24. doi VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment
    Lars Hoffmann
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225, Duesseldorf, Germany
    J Inherit Metab Dis 35:269-77. 2012
    ..Studies in greater patient numbers are needed to correlate residual activities >10% with the genotype and the outcome...
  25. ncbi Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
    ..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...
  26. ncbi MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
    Ute Spiekerkoetter
    Vanderbilt University School of Medicine, Department of Pediatrics, Nashville, Tennessee, 37232, USA
    J Pediatr 143:335-42. 2003
    ..To determine whether asymptomatic persons with biochemical evidence of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency identified through expanded newborn screening with tandem mass spectometry have confirmed disease...
  27. pmc Corresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD mice
    Frank ter Veld
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Lipid Res 50:1556-62. 2009
    ..This is the first study demonstrating that acylcarnitines and acyl-CoA directly correlate and concomitantly increase after exercise in VLCAD-deficient muscle...
  28. pmc A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns
    Frank ter Veld
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    PLoS ONE 4:e6449. 2009
    ..Therefore, we developed a new liquid chromatography tandem mass spectrometry (LC-MS/MS) method to rapidly determine both MCAD- and/or VLCAD-activity in human lymphocytes in order to confirm diagnosis...
  29. doi Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 157:668-73. 2010
    ..To evaluate newborn screening (NBS) for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), we further characterized newborns with elevation of one or all C14-carnitine derivatives on NBS from a total of 90 338 newborns...
  30. doi Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a β-oxidation defect
    Sara Tucci
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Am J Clin Nutr 94:439-49. 2011
    ....
  31. doi Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice
    Sara Tucci
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    Mol Genet Metab 101:40-7. 2010
    ..These results suggest a critical reconsideration of a long-term MCT-modified diet in human VLCADD. In contrast, MCT in situations of increased energy demand appears to be a safer treatment alternative...
  32. doi Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I
    Eva Thimm
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
    Mol Genet Metab 102:122-5. 2011
    ....
  33. doi Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening
    Astrid Sperk
    University Children s Hospital, Department of General Pediatrics, Moorenstr 5, 40225 Duesseldorf, Germany
    Mol Genet Metab 101:205-7. 2010
    ..TFP and LCHAD deficiencies remain life-threatening disorders. This is in clear contrast to other defects of long-chain fatty acid oxidation after identification by newborn screening...
  34. doi Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice
    Sara Tucci
    Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany Department of General Pediatrics, University Children s Hospital Duesseldorf, 40225 Duesseldorf, Germany Electronic address
    Biochim Biophys Acta 1842:677-85. 2014
    ..Cardiac MRI and MRS may be excellent tools to assess minor changes in cardiac function and energetics in patients with β-oxidation defects for preventive therapy. ..
  35. doi Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes
    Lars Hoffmann
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Moorenstrasse 5, 40225, Duesseldorf, Germany
    Lipids 49:25-37. 2014
    ....
  36. doi ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, D 40225, Germany
    Mol Genet Metab 101:141-5. 2010
    ..The concentration and the predictive value of the carnitine precursor γ-butyrobetaine in blood during carnitine deficiency are unknown...
  37. doi Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-Orbitrap
    Diran Herebian
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Rapid Commun Mass Spectrom 24:791-800. 2010
    ..The applied MS strategy, based on two different MS platforms (LC/MS/MS and FTMS), allowed the rapid identification analysis of the drug metabolites from human extracts and could be used for pharmaceutical research and drug development...
  38. ncbi Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
    Ute Spiekerkoetter
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Hum Mutat 20:447-51. 2002
    ..TFP deficiency is another disorder that has become manifest due to isodisomy of chromosome 2. This information will impact genetic counseling for these families, reducing greatly the 25% risk normally used for recessive disorders...
  39. doi Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1
    Jan Ulrich Schlump
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, Dusseldorf, Germany
    Eur J Pediatr 169:569-72. 2010
    ..In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening...
  40. doi Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents
    Eva Thimm
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Duesseldorf, Dusseldorf, Germany
    J Inherit Metab Dis 36:767-72. 2013
    ..With relaxation of dietary phenylalanine restriction at 10 years of age, these concerns diminish. ..