transporté par l’ETF (Electron-Transfer Flavoprotein) et l’ETF-DF (Electron-Transfer Flavoprotein DeHydrogenase) jusqu’au coenzyme Q10 de la chaîne respiratoire (figure VII-3-1 ) [Stopek, et al., 2008], [Zschocke J., Hoffmann GF., 2005]. Multiple Acyl Coenzyme A Dehydrogenase Deficiency: 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). The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE-S cluster. Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness. HHS 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 is due to the deficiency of one of the two electron transporters: electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxydoreductase (ETF-QO). A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. 1977 Dec 10;252(23):8440-5 Electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase or electron transfer flavoprotein-ubiquinone oxidoreductase, EC 1.5.5.1) is an enzyme that transfers electrons from electron-transferring flavoprotein in the mitochondrial matrix, to the ubiquinone pool in the inner mitochondrial membrane. Deficiency … Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Frerman, F.E. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone … Edit. ScienceDirect ® is a registered trademark of Elsevier B.V. ScienceDirect ® is a registered trademark of Elsevier B.V. Electron transfer flavoprotein deficiency: Functional and molecular aspects, Multiple acyl-CoA dehydrogenase deficiency. Epub 2019 Nov 13. Wikipedia is a free online encyclopedia, created and edited by volunteers around the world and hosted by the Wikimedia Foundation. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Nine novel disease-causing ETF mutations are reported. Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. Crystal … Natl. 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. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. 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). [1] [2] It is part of the electron transport chain. Brain Dev 24:675–680 … 1976 Jan 16;66(2):227-39 COVID-19 is an emerging, rapidly evolving situation. 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 . USA.gov. These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. Mol Genet Metab. 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). 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. This site needs JavaScript to work properly. The infant onset form is the most severe. ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. Epub 2010 Oct 16. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Symptoms of Electron Transfer Flavoprotein, deficiency of. 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) Tamaoki Y, Kimura M, Hasegawa Y et al (2002) A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. 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 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 … In humans, it is encoded by the ETFDH gene. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1989 , 975 (1) , 127-131. Glutaric acidemia type II (GA II) is a human genetic disorder. Abstract. Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The electron transfer flavoprotein: ubiquinone oxidoreductases. 1987 Sep 10;893(2):161-9. doi: 10.1016/0005-2728(87)90035-1. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Glutaric acidemia type II (GA II) is a human genetic disorder. 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). Goodman SI, Binard RJ, Woontner MR, Frerman FE. USA 82 (1985) 4517–4520. Electron transfer flavoprotein deficiency: functional and molecular aspects. Schiff, M., Froissart, R., Olsen, R. K., Acquaviva, C., & Vianey-Saban, C. (2006). Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. A case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. Copyright © 2006 Elsevier Inc. All rights reserved. J Biol Chem. Epub 2020 Sep 18. ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively. The severity of symptoms depends on the level of deficiency. Schiff M., Froissart R., Olsen R.K., Acquaviva C., Vianey-Saban C. 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). Frerman FE, Goodman SI. Biochem J. AB - We used riboflavin to treat a patient with lipid myopathy, reduced exercise capacity, intolerance to fasting, and reduced concentrations of carnitine in muscle and serum. 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. 2019 Dec 21;2019:1598213. doi: 10.1155/2019/1598213. 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. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Fibroblasts from two other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). 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) 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 4Fe-4S … Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by mutation of the electron transfer flavoprotein A (ETFA), electron transfer flavoprotein B (ETFB), or electron transfer flavoprotein dehydrogenase (ETFDH) genes, resulting in dysfunction of mitochondrial electron transfer and lipid storage myopathy (LSM) [1,2,3]. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. ; This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and multisystem dysfunctions. Electron transfer flavoprotein deficiency: functional and molecular aspects. Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. Protein measurement with the Folin phenol reagent. eCollection 2019. 1. 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). Peter Bross, Palle Pedersen, Vibeke Winter, Marit Nyholm, Bent Nagstrup Johansen, Rikke K.J. Sci. -, FEBS Lett. Human ortholog(s) of this gene implicated in multiple acyl-CoA dehydrogenase deficiency. The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. IDs Click on a disease name to see all genes associated with that disease. Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … Almost every ATP producing Proceedings of the National Academy of Sciences, 82(13), 4517-4520. Multiple Acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II (GA II), is a rare autosomal recessive disorder of fatty acid, amino acid‘, and choline metabolism caused by a defect in the alpha or beta subunit of the mitochondrial electron transfer flavoprotein (ETFA, ETFB) protein or the electron transfer flavoprotein dehydrogenase (ETFDH) protein. Tamaoki Y, Kimura M, Hasegawa Y et al (2002) A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. Biochim Biophys Acta. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron-transferring-flavoprotein dehydrogenase is an enzyme that transfers electrons from electron-transferring flavoprotein in the mitochondrial matrix, to the ubiquinone pool in the inner mitochondrial membrane. Electron Transfer Flavoprotein Deficiency (n.). 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) We report here two adult cases with ETF-QO deficiency, … Un déficit en ETF déshydrogénase provoque l' acidémie glutarique type 2 (en). 2018 Mar 30;293(13):4688-4701. doi: 10.1074/jbc.RA117.000707. Clipboard, Search History, and several other advanced features are temporarily unavailable. Elle transfère des électrons depuis la flavoprotéine de transfert d'électrons dans la matrice mitochondriale vers l' ubiquinone de la membrane mitochondriale interne,. J Biol Chem. 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. Niska-Blakie J, Gopinathan L, Low KN, Kien YL, Goh CMF, Caldez MJ, Pfeiffenberger E, Jones OS, Ong CB, Kurochkin IV, Coppola V, Tessarollo L, Choi H, Kanagasundaram Y, Eisenhaber F, Maurer-Stroh S, Kaldis P. Cell Mol Life Sci. 1984; 7 (Suppl 2):99–100. -, Clin Chim Acta. 1970 Aug 15;227(5259):680-5 Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric aciduria type II fibroblasts.Proc. Multiple acyl-CoA-dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) are a group of metabolic disorders due to deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxidoreductase (ETF-QO). 1979 Apr 25;254(8):2730-5  |  Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary 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. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Glutaric acidemia type II (GA II) is a human genetic disorder. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. 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. Simkovic M, Degala GD, Eaton SS, Frerman FE. 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. The list of signs and symptoms mentioned in various sources for Electron Transfer Flavoprotein, deficiency of includes the 9 symptoms listed below: . A male infant with glutaric aciduria II secondary to electron transfer flavoprotein: ubiquinone oxidoreductase deficiency is compared to previously reported cases of glutaric aciduria II. -. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. The infant onset form is the most severe. Glutaric acidemia type II (GA II) is a human genetic disorder. Mutations in the ETFA/ETFB or ETFDH genes, which encode the two subunits of Electron Transfer Flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF-QO), respectively, cause multiple acyl-CoA dehydrogenase deficiency (MADD), a congenital metabolic disease with a broad clinical expression [1]. This is the first documented case of ETF:QO diagnosed in an adult. Frerman, Frank E.; Goodman, Stephen I. Abstract. Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. flavoprotein dehydrogenases (ref. https://doi.org/10.1016/j.ymgme.2006.01.009. 2002 Jun 15;364(Pt 3):659-67. doi: 10.1042/BJ20020042. Glutaric acidemia type II (GA II) is a human genetic disorder. Read "Molecular study of electron transfer flavoprotein α‐subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II, European Journal of Clinical Investigation" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase or electron transfer flavoprotein-ubiquinone oxidoreductase, EC 1.5.5.1) is an enzyme that transfers electrons from electron-transferring flavoprotein in the mitochondrial matrix, to the ubiquinone pool in the inner mitochondrial membrane. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. They can be functionally classified into constitutive, "housekeeping" ETFs, mainly involved in the oxidation of fatty acids (Group I), and ETFs produced by so… ETFDH, electron transfer flavoprotein dehydrogenase Orthology source: HomoloGene, HGNC Synonyms ETFQO, MADD ... multiple acyl-CoA dehydrogenase deficiency. Biochim Biophys Acta. Phosphorus (P) is an essential macronutrient, and P deficiency limits plant productivity. NIH Late onset … Acad. Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. The systematic application of newborn screening Electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase. 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