Biochim Biophys Acta. It is part of the electron transport chain. 1. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. 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 … 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]. Crystal … Copyright © 2021 Elsevier B.V. or its licensors or contributors. Goodman SI, Binard RJ, Woontner MR, Frerman FE. Proceedings of the National Academy of Sciences, 82(13), 4517-4520. 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 . 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. Glutaric acidemia type II (GA II) is a human genetic disorder. The infant onset form is the most severe. Acad. 1987 Sep 10;893(2):161-9. doi: 10.1016/0005-2728(87)90035-1. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … 1970 Aug 15;227(5259):680-5 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. ETFDH, electron transfer flavoprotein dehydrogenase Orthology source: HomoloGene, HGNC Synonyms ETFQO, MADD ... multiple acyl-CoA dehydrogenase deficiency. 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). The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. Related information in OMIM. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. This is the first documented case of ETF:QO diagnosed in an adult. 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. 1 Introduction. Electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase. -. flavoprotein: [ fla″vo-pro´tēn ] a conjugated protein containing a flavin nucleotide. 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. 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. Glutaric acidemia type II (GA II) is a human genetic disorder. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone … Protein measurement with the Folin phenol reagent. Epub 2010 Oct 16. J Biol Chem. 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. 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). Epub 2020 Sep 18. Nine novel disease-causing ETF mutations are reported. -, Clin Chim Acta. Would you like email updates of new search results? Google Scholar Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. 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).  |  [Google Scholar] LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. 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. Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. Many patients with late onset of MADD improve when treated with … This enzyme is thought to reduce coenzyme Q in … Abstract. Biochim Biophys Acta. IDs Click on a disease name to see all genes associated with that disease. Fibroblasts from two other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. 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. 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]. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Fibroblasts … Glutaric acidemia type II (GA II) is a human genetic disorder. -, FEBS Lett. 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. 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 case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. USA.gov. Mol Genet Metab. Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy. Wikipedia is a free online encyclopedia, created and edited by volunteers around the world and hosted by the Wikimedia Foundation. Multiple Acyl CoA Dehydrogenase Deficiency (MADD) MADD is due to mutations in electron transfer flavoprotein A or B or to mutations in electron transfer flavoprotein dehydrogenase (ETFDH, ETF:ubiquinone oxidoreductase) (4). Biochimica et Biophysica Acta (BBA) - Bioenergetics 1989 , 975 (1) , 127-131. The systematic application of newborn screening Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary eCollection 2019. Human ortholog(s) of this gene implicated in multiple acyl-CoA dehydrogenase deficiency. 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]. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. 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. 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.  |  Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect. 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. 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. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. 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). Un déficit en ETF déshydrogénase provoque l' acidémie glutarique type 2 (en). Metabolic acidosis; Low blood sugar NLM Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria. flavoprotein dehydrogenases (ref. 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). They can be functionally classified into constitutive, "housekeeping" ETFs, mainly involved in the oxidation of fatty acids (Group I), and ETFs produced by so… 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. Epub 2019 Nov 13. We report here two adult cases with ETF-QO deficiency, … ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. 1977 Dec 10;252(23):8440-5 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. 2010 Dec;1797(12):1910-6. doi: 10.1016/j.bbabio.2010.10.007. COVID-19 is an emerging, rapidly evolving situation. Electron transfer flavoprotein deficiency: functional and molecular aspects. 2020 Sep;77(17):3423-3439. doi: 10.1007/s00018-019-03359-z. ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively. 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 … The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE-S cluster. Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. ; Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. Fibroblasts from parents of two of these patients had ETF:QO activity intermediate between activities in control fibroblasts and fibroblasts from the patients. Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency ICD-11 More detail Preferred Label : Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency; ICD-11 definition : This refers to deficiency in 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-ubiquinone oxidoreductase, mitochondrial (EC: 1.5.5.1 ) Short name: ETF-QO. The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. The list of signs and symptoms mentioned in various sources for Electron Transfer Flavoprotein, deficiency of includes the 9 symptoms listed below: . Das Elektronentransferierende Flavoprotein (abgekürzt ETF) ist ein Komplex aus zwei Proteinketten, der in Bakterien und Eukaryoten Teil der Atmungskette ist. Elle intervient de ce fait dans la chaîne respiratoire. Please enable it to take advantage of the complete set of features!  |  2018 Mar 30;293(13):4688-4701. doi: 10.1074/jbc.RA117.000707. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. Elle transfère des électrons depuis la flavoprotéine de transfert d'électrons dans la matrice mitochondriale vers l' ubiquinone de la membrane mitochondriale interne,. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). 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 … 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. 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. 1984; 7 (Suppl 2):99–100. Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 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). 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. Late onset … 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). Glutaric acidemia type II (GA II) is a human genetic disorder. Case reports. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). J Inherit Metab Dis. In humans, it is encoded by the ETFDH gene. Indeed mito-chondria are widespread in high energy requiring organs like brain, heart and muscles. We use cookies to help provide and enhance our service and tailor content and ads. The electron transfer flavoprotein: ubiquinone oxidoreductases. Symptoms of Electron Transfer Flavoprotein, deficiency of. Electron Transfer Flavoprotein Deficiency (n.). Deficiency … Frerman, F.E. Electron Transfer Flavoprotein Deficiency (n.). 2002 Jun 15;364(Pt 3):659-67. doi: 10.1042/BJ20020042. 1979 Apr 25;254(8):2730-5 and Goodman, S.I. 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. 1976 Mar 15;63(1):51-5 https://doi.org/10.1016/j.ymgme.2006.01.009. 1. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. 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. 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. 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 infant onset form is the most severe. Electron-transfer flavoprotein from anaerobic Ascaris suum mitochondria and its role in NADH-dependent 2-methyl branched-chain enoyl-CoA reduction. 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). A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. 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 … … The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. 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). Gene implicated in multiple acyl-CoA dehydrogenase deficiency around the world and hosted by the Wikimedia Foundation Sep-Oct ; (... 5 ):4396-4402. doi: 10.1042/BJ20020042, Palle Pedersen, Vibeke Winter, Marit,... 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