Ute Spiekerkoetter

Summary

Affiliation: Vanderbilt University
Country: USA

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint 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
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. ncbi request reprint 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
  6. doi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint 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
  10. doi request reprint 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

Collaborators

Detail Information

Publications10

  1. ncbi request reprint 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...
  2. ncbi request reprint 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint 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...
  5. ncbi request reprint 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...
  6. doi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint 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...
  10. doi request reprint 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...