He had glutaric aciduria type II, and his cultured fibroblasts contained normal activity of four different acyl CoA dehydrogenases, but there was deficiency of electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO). NIH Electron transfer flavoprotein (ETF) exists in the mitochondrial matrix as a heterodimer of 30-kD alpha subunits (ETFA; 608053) and 28-kD beta subunits (ETFB; 130410) and contains 1 flavin adenine dinucleotide (FAD) and 1 adenosine 5-prime monophosphate (AMP) per heterodimer.ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a … Symptoms of Electron Transfer Flavoprotein, deficiency of. 2020 Sep;77(17):3423-3439. doi: 10.1007/s00018-019-03359-z. Subsequent studies established electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) deficiency (fibroblast ETF:QO activity was 2.9 mU/mg, normal range is 14.1 ± 3.8 mU/mg) as the cause of her illness. https://doi.org/10.1016/j.ymgme.2006.01.009. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Fibroblasts from three unrelated GA II patients were deficient in immunologically detectable ETF:QO and extracts from these three fibroblast lines contained no detectable ETF:QO catalytic activity. Google Scholar These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. Dernoncourt A, Bouchereau J, Acquaviva-Bourdain C, Wicker C, De Lonlay P, Gourguechon C, Sevestre H, Merle PE, Maizel J, Brault C. Case Rep Crit Care. Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency Bárbara J. Henriques1, Peter Bross 2, Cláudio M. Gomes1,* 1 Instituto Tecnologia Química e Biológica, Universidade Nova de Lisboa, Oeiras, Portugal ETF is a mitochondrial matrix protein consisting of α- (30 kDa) and β- (28 kDa) subunits encoded by the ETFA and ETFB genes, respectively. It is due to the deficiency of one of the two electron transporters: electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxydoreductase (ETF-QO). Indeed mito-chondria are widespread in high energy requiring organs like brain, heart and muscles. -, J Biol Chem. The clinical spectrum ranges from a fatal multisystem disease of infancy to a less severe disorder in which symptoms emerge in adolescence or adult life. Many patients with late onset of MADD improve when treated with … Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Glutaric acidemia type II (GA II) is a human genetic disorder. Elle transfère des électrons depuis la flavoprotéine de transfert d'électrons dans la matrice mitochondriale vers l' ubiquinone de la membrane mitochondriale interne,. Deficiency … Electron transfer flavoprotein (ETF) exists in the mitochondrial matrix as a heterodimer of 30-kD alpha subunits (ETFA) and 28-kD beta subunits (ETFB) and contains 1 flavin adenine dinucleotide (FAD) and 1 adenosine 5-prime monophosphate (AMP) per heterodimer. Un déficit en ETF déshydrogénase provoque l' acidémie glutarique type 2 (en). It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. Fibroblasts from three unrelated GA II patients were deficient in immunologically detectable ETF:QO and extracts from these three fibroblast lines contained no detectable ETF:QO catalytic activity. Here, we describe pathogenic mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene in seven patients from five independent families fulfilling the clinical, histological and biochemical criteria of the myopathic form of coenzyme Q10 deficiency. It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the acyl-CoA dehydrogenases and the bc1 complex of the mitochondrial respiratory chain. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Wikipedia is a free online encyclopedia, created and edited by volunteers around the world and hosted by the Wikimedia Foundation. -. In humans, it is encoded by the ETFDH gene. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone … Would you like email updates of new search results? HHS Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1) An electron transfer flavoprotein (ETF) or electron transfer flavoprotein complex (CETF) is a flavoprotein located on the matrix face of the inner mitochondrial membrane and functions as a specific electron acceptor for primary dehydrogenases, transferring the electrons to terminal respiratory systems such as electron-transferring-flavoprotein dehydrogenase. This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and multisystem dysfunctions. COVID-19 is an emerging, rapidly evolving situation. J Biol Chem. The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). Knockout of the non-essential gene SUGCT creates diet-linked, age-related microbiome disbalance with a diabetes-like metabolic syndrome phenotype. 1984; 7 (Suppl 2):99–100. Glutaric acidemia type II (GA II) is a human genetic disorder. The ETF assay provides a reliable diagnostic tool to confirm ETF deficiency in patients suspected to suffer from MADD. Das Elektronentransferierende Flavoprotein (abgekürzt ETF) ist ein Komplex aus zwei Proteinketten, der in Bakterien und Eukaryoten Teil der Atmungskette ist. They can be functionally classified into constitutive, "housekeeping" ETFs, mainly involved in the oxidation of fatty acids (Group I), and ETFs produced by so… Multiple acyl-CoA dehydrogenase deficiency (MADD) is a recessively inherited metabolic disorder that can be due to a deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-ubiquinone oxidoreductase). J Biol Chem. USA 82 (1985) 4517–4520. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. eCollection 2019 Sep. Duan HD, Lubner CE, Tokmina-Lukaszewska M, Gauss GH, Bothner B, King PW, Peters JW, Miller AF. e A stable elementary particle in the lepton class having a negative electric charge of 1 elementary unit (about 1.602 × 10-19 coulombs) and a mass of about 9.11 × 10-28 grams. In the present study, we have analysed tissue samples from 16 unrelated patients with ETF deficiency, and we report the results of ETF activity, Western blot analysis and mutation analysis. Phosphorus (P) is an essential macronutrient, and P deficiency limits plant productivity. Brain Dev 24:675–680 … This article includes discussion of multiple acyl-CoA dehydrogenase deficiency, MADD, MAD deficiency, glutaric aciduria type II, ethylmalonic-adipic aciduria, electron transfer flavoprotein deficiency, electron transfer flavoprotein dehydrogenase deficiency, electron transfer flavoprotein: ubiquinone oxidoreductase deficiency, ETF deficiency, ETFDH deficiency, and ETFQO deficiency. Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness. Electron Transfer Flavoprotein Beta Subunit Deficiency (n.). Biochim Biophys Acta. Glutaric acidemia type II (GA II) is a human genetic disorder. Sci. We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene (ETFDH). It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the acyl-CoA dehydrogenases and the bc1 complex of the mitochondrial respiratory chain. Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria. tron (ĭ-lĕk′trŏn′) n. Abbr. The severity of symptoms depends on the level of deficiency. Glutaric acidemia type II (GA II) is a human genetic disorder. Related information in OMIM. An electron transfer flavoprotein (ETF) or electron transfer flavoprotein complex (CETF) is a flavoprotein located on the matrix face of the inner mitochondrial membrane and functions as a specific electron acceptor for primary dehydrogenases, transferring the electrons to terminal respiratory systems such as electron-transferring-flavoprotein dehydrogenase. We report here two adult cases with ETF-QO deficiency, … Copyright © 2006 Elsevier Inc. All rights reserved. An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1) Human ortholog(s) of this gene implicated in multiple acyl-CoA dehydrogenase deficiency. He had glutaric aciduria type II, and his cultured fibroblasts contained normal activity of four different acyl CoA dehydrogenases, but there was deficiency of electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO). Fibroblasts … ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively. Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … Abstract. 1976 Jan 16;66(2):227-39 Almost every ATP producing Multiple acyl-CoA dehydrogenation deficiency (MADD) are caused by mutations in the gene encoding the electron transfer flavoprotein dehydrogenase, an enzyme in respiratory chain, resulting in abnormal fatty acid, choline and amino acid metabolism . -, FEBS Lett. Natl. Orthologous to human ETFB (electron transfer flavoprotein subunit beta); PARTICIPATES IN fatty acid beta degradation pathway; INTERACTS WITH (+)-schisandrin B; (R)-adrenaline; 2,2,2-tetramine. Fibroblasts from two other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. 2010 Dec;1797(12):1910-6. doi: 10.1016/j.bbabio.2010.10.007. Goodman SI, Binard RJ, Woontner MR, Frerman FE. Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. Fatty acids are the main energy supply for muscles both at rest and during aerobic exercise while ketones supply brain cells during periods of fasting when glucose levels drop. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. 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