Journal ArticleDOI
Riboflavin-responsive Defects of β-Oxidation
TLDR
Patients with multiple acyl-CoA dehydrogenation deficiencies have been found in whom the defect has been located to ETF and/or ETFDH, which indicates a defect related to the metabolism of FAD.Abstract:
The key reaction in the β-oxidation of fatty acids is the acyl-CoA dehydrogenation, catalyzed by short chain, medium chain, and long chain acyl-CoA dehydrogenases. Acyl-CoA dehydrogenation reactions are also involved in the metabolism of the branched chain amino acids, where isovaleryl-CoA and 2-methylbutyryl-CoA dehydrogenases are involved and in the metabolism of lysine, 5-hydroxylysine and tryptophan, where glutaryl-CoA dehydrogenase functions. In all of these dehydrogenation systems reducing equivalents are transported to the main respiratory chain by electron transfer flavoprotein (ETF) and electron transfer flavoprotein dehydrogenase (ETFDH), which are common to all the dehydrogenation systems. The acyl-CoA dehydrogenation enzymes are dependent on flavin adenine dinucleotide (FAD) as coenzyme, for which riboflavin is the precursor. Patients with multiple acyl-CoA dehydrogenation deficiencies have been found in whom the defect has been located to ETF and/or ETFDH. A few patients with multiple acyl-CoA dehydrogenation deficiencies have been described, in whom no defects in acyl-CoA dehydrogenases, ETF or ETFDH have been found but who respond clinically and biochemically to pharmacological doses of riboflavin. This indicates a defect related to the metabolism of FAD. An uptake defect of riboflavin or a synthesis defect of FAD from riboflavin have been excluded byin vivo andin vitro studies. A mitochondrial transport defect of FAD or a defect in the binding FAD to ETF and/or ETFDH remains possible.read more
Citations
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Journal ArticleDOI
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Rikke Katrine Jentoft Olsen,Brage S. Andresen,Brage S. Andresen,Ernst Christensen,Peter Bross,Flemming Skovby,Niels Gregersen +6 more
TL;DR: Interestingly, the data suggest that homozygosity for two null mutations causes fetal development of congenital anomalies resulting in a type I disease phenotype, indicating that the effect of the ETF/ETFDH genotype in patients with milder forms of MADD, in whom residual enzyme activity allows modulation of the enzymatic phenotype, may be influenced by environmental factors like cellular temperature.
Journal ArticleDOI
Reconstructing the clostridial n-butanol metabolic pathway in Lactobacillus brevis
O. V. Berezina,Natalia V. Zakharova,Agnieszka Brandt,Sergey V. Yarotsky,Wolfgang H. Schwarz,Vladimir V. Zverlov,Vladimir V. Zverlov +6 more
TL;DR: The particular role of the enzymes involved in butanol production and the suitability of L. brevis as an n-butanol producer are discussed.
Journal ArticleDOI
The inborn errors of mitochondrial fatty acid oxidation.
TL;DR: The diagnosis of these disorders is of prime importance because of the severity of the clinical symptoms and can be prevented, in some cases, by an appropriate diet (a high carbohydrate, low fat diet, sometimes supplemented withl-carnitine).
Journal ArticleDOI
Mitochondrial fatty acid oxidation defects—remaining challenges
Niels Gregersen,Brage S. Andresen,Christina Bak Pedersen,Rikke Katrine Jentoft Olsen,Thomas J. Corydon,Peter Bross +5 more
TL;DR: The challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically.
Journal ArticleDOI
Prophylactic treatment of migraine with beta-blockers and riboflavin: differential effects on the intensity dependence of auditory evoked cortical potentials.
TL;DR: To investigate the influence of different pharmacological treatments on the intensity dependence of auditory evoked cortical potentials in migraineurs, a large number of migraineurs receive anti-inflammatory medication.
References
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Journal ArticleDOI
Glutaric aciduria type II: report on a previously undescribed metabolic disorder.
TL;DR: The name glutaric aciduria 'type II' is proposed for the patient's disease, tentatively supposed to be localized at the level of the metabolism of a range of acyl-CoA compounds.
Journal ArticleDOI
Glutaric aciduria Type II
TL;DR: Organic acid analysis revealed massive lactic aciduria and glutaric aciduria, and the pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.
Journal ArticleDOI
A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway.
F J Ruzicka,H Beinert +1 more
TL;DR: It is concluded that in vitro the Fe-S flavoprotein is an electron acceptor for ETF and a Q-l reductase and also functions in viva as an electron carrier in fatty acid oxidation.
Journal ArticleDOI
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.
TL;DR: Fatty acid oxidation studies performed on cultured fibroblasts from a patients who had suffered from a Reye's syndrome-like episode indicated that the patient had a defect of the general acyl-CoA dehydrogenase apoenzyme.