Ute Spiekerkoetter

Summary

Affiliation: Vanderbilt University
Country: USA

Publications

  1. ncbi request reprint General screening for celiac disease is advisable in children with type 1 diabetes
    U Spiekerkoetter
    Heinrich Heine University Hospital, Department of Pediatrics, Dusseldorf, Germany
    Horm Metab Res 34:192-5. 2002
  2. 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
  3. 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
  4. doi request reprint 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
  5. 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
  6. doi request reprint 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
  7. 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
  8. 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
  9. 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
  10. doi request reprint 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

Detail Information

Publications21

  1. ncbi request reprint General screening for celiac disease is advisable in children with type 1 diabetes
    U Spiekerkoetter
    Heinrich Heine University Hospital, Department of Pediatrics, Dusseldorf, Germany
    Horm Metab Res 34:192-5. 2002
    ..This strategy may allow the identification of patients in an early stage in respect of prevention of long-term complications...
  2. 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...
  3. 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...
  4. doi request reprint 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...
  5. 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...
  6. doi request reprint 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
    ....
  7. 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...
  8. 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...
  9. 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...
  10. doi request reprint 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...
  11. doi request reprint Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup
    Sebastian Kummer
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Moorenstr 5, 40225, Dusseldorf, Germany
    Pediatr Nephrol 29:155-9. 2014
    ..Phenotypical classification is based on urinary amino acid concentration as type I (silent), type non-I (hyper-excretors), mixed or untyped. Genotypic classification is based on mutations in SLC3A1 (type A) or SLC7A9 (type B)...
  12. doi request reprint 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
    ....
  13. 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...
  14. 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...
  15. doi request reprint 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. ..
  16. doi request reprint 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...