Affiliation: Vanderbilt University
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...