electron transfer flavoprotein deficiency

Electron Transfer Flavoprotein Deficiency (n.). Copyright © 2006 Elsevier Inc. All rights reserved. These data indicate that the primary defect in these patients is a deficiency of ETF:QO and that the mode of transmission of the gene is autosomal recessive. NIH Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Phosphorus (P) is an essential macronutrient, and P deficiency limits plant productivity. Frerman, Frank E.; Goodman, Stephen I. Abstract. 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. Copyright © 2021 Elsevier B.V. or its licensors or contributors. Edit. Un déficit en ETF déshydrogénase provoque l' acidémie glutarique type 2 (en). This enzyme is normally active in the mitochondria, the energy-producing centers in cells. We report the clinical features and biochemical and molecular genetic analyses of a patient with a mild late-onset form of GAII due to beta-ETF deficiency. Fischer T, Elpers C, Och U, Fobker M, Marquardt T. Mol Genet Metab Rep. 2019 Jun 28;20:100491. doi: 10.1016/j.ymgmr.2019.100491. Almost every ATP producing Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. 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. Metabolic acidosis; Low blood sugar Glutaric acidemia type II (GA II) is a human genetic disorder. We use cookies to help provide and enhance our service and tailor content and ads. Frerman FE, Goodman SI. 11; unpublished data)t that transfer electrons to the mitochondrial respiratory chain via electron transfer flavoprotein (ETF) (12, 13) and ETF: ubiquinone oxidoreductase (ETF:QO), an iron-sulfur flavoprotein (14). Epub 2018 Feb 9. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1989 , 975 (1) , 127-131. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. 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) 2002 Jun 15;364(Pt 3):659-67. doi: 10.1042/BJ20020042. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Abstract. Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary We report here two adult cases with ETF-QO deficiency, … A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. Simkovic M, Degala GD, Eaton SS, Frerman FE. 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) ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. COVID-19 is an emerging, rapidly evolving situation. Natl. Related information in OMIM. 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) These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. Biochem J. Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. 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). 1976 Jan 16;66(2):227-39 Deficiency … Please enable it to take advantage of the complete set of features! Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA, electron transfer flavoprotein β-subunit, ETFB and electron transfer flavoprotein … 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 . Keywords: Electron Transfer Flavoprotein Dehydrogenase, Deficiency, Pharmacological anesthetic agents Background Mitochondria are the energy producing organelles practic-ally in every human cell except erythrocytes. Clipboard, Search History, and several other advanced features are temporarily unavailable. 1951 Nov; 193 (1):265–275. Glutaric acidemia type II (GA II) is a human genetic disorder. 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. References. Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … By continuing you agree to the use of cookies. 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. Biochim Biophys Acta. 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]. Glutaric acidemia type II (GA II) is a human genetic disorder. [1] [2] It is part of the electron transport chain. eCollection 2019 Sep. Duan HD, Lubner CE, Tokmina-Lukaszewska M, Gauss GH, Bothner B, King PW, Peters JW, Miller AF. Das Elektronentransferierende Flavoprotein (abgekürzt ETF) ist ein Komplex aus zwei Proteinketten, der in Bakterien und Eukaryoten Teil der Atmungskette ist. 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). Glutaric acidemia type II (GA II) is a human genetic disorder. J Inherit Metab Dis. In addition, these investigations provide strong evidence for the specificity and physiological function of the iron-sulfur flavoprotein ETF:QO. https://doi.org/10.1016/j.ymgme.2006.01.009. J Biol Chem. Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values. 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), 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. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (EC: 1.5.5.1 ) Short name: ETF-QO. Late onset … A case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. Case reports. Electron transfer flavoprotein ubiquinone oxidoreductase deficiency. Frerman, F.E. 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]. The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. Glutaric acidemia type II (GA II) is a human genetic disorder. Mol Genet Metab. ETFDH, electron transfer flavoprotein dehydrogenase Orthology source: HomoloGene, HGNC Synonyms ETFQO, MADD ... multiple acyl-CoA dehydrogenase deficiency. Would you like email updates of new search results? Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. 2019 Dec 21;2019:1598213. doi: 10.1155/2019/1598213. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. and Goodman, S.I. The severity of symptoms depends on the level of deficiency. -, J Biol Chem. … National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. -, Clin Chim Acta. Das Heterodimer aus ETF-α und ETF-β ist dort für den Transport zweier Elektronen, welche durch FADH 2 zur Verfügung gestellt werden, verantwortlich. 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.  |  It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). 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. 2020 Sep;77(17):3423-3439. doi: 10.1007/s00018-019-03359-z. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. The systematic application of newborn screening 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. 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. Biochim Biophys Acta. J Biol Chem. The severity of symptoms depends on the level of deficiency. 2018 Mar 30;293(13):4688-4701. doi: 10.1074/jbc.RA117.000707. 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