Genomes and Genes
Affiliation: Vanderbilt University
- General screening for celiac disease is advisable in children with type 1 diabetesU 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...
- Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutationsUte 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...
- Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variantsMarga 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...
- Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBCEva 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...
- 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 turnoverUte 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...
- Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type IEva Thimm
Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
Mol Genet Metab 102:122-5. 2011....
- Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional proteinUte 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...
- A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newbornsFrank 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...
- MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiencyUte 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...
- Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-OrbitrapDiran 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...
- Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workupSebastian 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)...
- Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a β-oxidation defectSara Tucci
Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
Am J Clin Nutr 94:439-49. 2011....
- Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutationsUte 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...
- Corresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD miceFrank 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...
- Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parentsEva 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. ..
- Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1Jan 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...
- Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levelsMichaela 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...
- Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometryIna 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...
- Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient miceUte 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...
- Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitineSonja 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...
- Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiencyUte 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...