Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. 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. In addition, these investigations provide strong evidence for the specificity and physiological function of the iron-sulfur flavoprotein ETF:QO. 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). 2002 Jun 15;364(Pt 3):659-67. doi: 10.1042/BJ20020042. 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 … Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. 1977 Dec 10;252(23):8440-5 Human ortholog(s) of this gene implicated in multiple acyl-CoA dehydrogenase deficiency. 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. Electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase. Frerman FE, Goodman SI. Schiff, M., Froissart, R., Olsen, R. K., Acquaviva, C., & Vianey-Saban, C. (2006). 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. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Copyright © 2006 Elsevier Inc. All rights reserved. Epub 2010 Oct 16. 1984; 7 (Suppl 2):99–100. Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness. [Google Scholar] LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. 1. Epub 2019 Nov 13. Abstract. Biochim Biophys Acta. 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) Natl. Related information in OMIM. Goodman SI, Binard RJ, Woontner MR, Frerman FE. The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. 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. Keywords: Electron Transfer Flavoprotein Dehydrogenase, Deficiency, Pharmacological anesthetic agents Background Mitochondria are the energy producing organelles practic-ally in every human cell except erythrocytes. 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. Simkovic M, Degala GD, Eaton SS, Frerman FE. Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. eCollection 2019 Sep. Duan HD, Lubner CE, Tokmina-Lukaszewska M, Gauss GH, Bothner B, King PW, Peters JW, Miller AF. J Biol Chem. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. The systematic application of newborn screening Acad. Glutaric acidemia type II (GA II) is a human genetic disorder. Sci.  |  2018 Mar 30;293(13):4688-4701. doi: 10.1074/jbc.RA117.000707. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. 1. Crystal … 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]. Glutaric acidemia type II (GA II) is a human genetic disorder. Nine novel disease-causing ETF mutations are reported. 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]. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (EC: 1.5.5.1 ) Short name: ETF-QO. We report here two adult cases with ETF-QO deficiency, … The severity of symptoms depends on the level of deficiency. By continuing you agree to the use of cookies. https://doi.org/10.1016/j.ymgme.2006.01.009. 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. 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. Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. -, Clin Chim Acta. 1979 Apr 25;254(8):2730-5 Copyright © 2021 Elsevier B.V. or its licensors or contributors. 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. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone … 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. 1976 Mar 15;63(1):51-5 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 … Elle intervient de ce fait dans la chaîne respiratoire. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. 2020 Sep;77(17):3423-3439. doi: 10.1007/s00018-019-03359-z. Elle transfère des électrons depuis la flavoprotéine de transfert d'électrons dans la matrice mitochondriale vers l' ubiquinone de la membrane mitochondriale interne,. Frerman, F.E. J Biol Chem. Biochim Biophys Acta. USA.gov. Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. Many patients with late onset of MADD improve when treated with … It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. 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. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). 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. The list of signs and symptoms mentioned in various sources for Electron Transfer Flavoprotein, deficiency of includes the 9 symptoms listed below: . In humans, it is encoded by the ETFDH gene. Electron Transfer Flavoprotein Beta Subunit Deficiency (n.). IDs Click on a disease name to see all genes associated with that disease. Please enable it to take advantage of the complete set of features! The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. 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 … 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. 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. Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. 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/. Clipboard, Search History, and several other advanced features are temporarily unavailable. NLM 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 from anaerobic Ascaris suum mitochondria and its role in NADH-dependent 2-methyl branched-chain enoyl-CoA reduction. flavoprotein dehydrogenases (ref. 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. This enzyme is thought to reduce coenzyme Q in … 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. 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. 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. Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … Fibroblasts … -. It is part of the electron transport 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) 1970 Aug 15;227(5259):680-5 Symptoms of Electron Transfer Flavoprotein, deficiency of. 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). Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Almost every ATP producing Google Scholar Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency. Glutaric acidemia type II (GA II) is a human genetic disorder. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Would you like email updates of new search results? 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 … Knockout of the non-essential gene SUGCT creates diet-linked, age-related microbiome disbalance with a diabetes-like metabolic syndrome phenotype. 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. 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). 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. 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. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1989 , 975 (1) , 127-131. Proceedings of the National Academy of Sciences, 82(13), 4517-4520. 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). 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. Electron Transfer Flavoprotein Deficiency (n.). This enzyme is normally active in the mitochondria, the energy-producing centers in cells. 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). Deficiency … The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient. Epub 2020 Sep 18. Das Heterodimer aus ETF-α und ETF-β ist dort für den Transport zweier Elektronen, welche durch FADH 2 zur Verfügung gestellt werden, verantwortlich. The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE-S cluster. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The infant onset form is the most severe. 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. COVID-19 is an emerging, rapidly evolving situation. 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. … Brain Dev 24:675–680 … 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. 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. The ETF assay provides a reliable diagnostic tool to confirm ETF deficiency in patients suspected to suffer from MADD. 1987 Sep 10;893(2):161-9. doi: 10.1016/0005-2728(87)90035-1. They can be functionally classified into constitutive, "housekeeping" ETFs, mainly involved in the oxidation of fatty acids (Group I), and ETFs produced by so… 2019 Dec 21;2019:1598213. doi: 10.1155/2019/1598213. Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. 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 [1] [2] It is part of the electron transport chain. ; Un déficit en ETF déshydrogénase provoque l' acidémie glutarique type 2 (en). 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). 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]. A case of an 8 year old child with known Electron Transfer Flavoprotein Dehydrogenase deficiency (ETFDH deficiency) requiring surgery for acute appendicitis is presented. Electron Transfer Flavoprotein Deficiency (n.). tron (ĭ-lĕk′trŏn′) n. Abbr.  |  Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary Indeed mito-chondria are widespread in high energy requiring organs like brain, heart and muscles. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria. 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). 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). Late onset … The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. 1976 Jan 16;66(2):227-39 Das Elektronentransferierende Flavoprotein (abgekürzt ETF) ist ein Komplex aus zwei Proteinketten, der in Bakterien und Eukaryoten Teil der Atmungskette ist. The infant onset form is the most severe. 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. and Goodman, S.I. 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. 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). USA 82 (1985) 4517–4520. J Inherit Metab Dis. Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect.  |  The electron transfer flavoprotein: ubiquinone oxidoreductases. Glutaric acidemia type II (GA II) is a human genetic disorder. 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. 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. ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. 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 … The severity of symptoms depends on the level of deficiency. Metabolic acidosis; Low blood sugar 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. References. 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. 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. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values. Protein measurement with the Folin phenol reagent. ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively. Frerman, Frank E.; Goodman, Stephen I. Abstract. -, FEBS Lett. Electron transfer flavoprotein deficiency: functional and molecular aspects. This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and multisystem dysfunctions. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric aciduria type II fibroblasts.Proc. Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. 1951 Nov; 193 (1):265–275. This site needs JavaScript to work properly. 1. -, J Biol Chem. Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. We use cookies to help provide and enhance our service and tailor content and ads. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). 1 Introduction. ETF is a mitochondrial matrix protein consisting of α- (30 kDa) and β- (28 kDa) subunits encoded by the ETFA and ETFB genes, respectively. Electron transfer flavoprotein ubiquinone oxidoreductase deficiency. Biochem J. flavoprotein: [ fla″vo-pro´tēn ] a conjugated protein containing a flavin nucleotide. Edit. Epub 2018 Feb 9. These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Wikipedia is a free online encyclopedia, created and edited by volunteers around the world and hosted by the Wikimedia Foundation. 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. Mol Genet Metab. eCollection 2019. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. 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. ETFDH, electron transfer flavoprotein dehydrogenase Orthology source: HomoloGene, HGNC Synonyms ETFQO, MADD ... multiple acyl-CoA dehydrogenase deficiency. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. 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) Phosphorus (P) is an essential macronutrient, and P deficiency limits plant productivity. 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). Case reports. HHS 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). 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. Fibroblasts from two other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. Of signs and symptoms mentioned in various sources for electron transfer flavoprotein FixAB from, Nature levels of ETF-QO and! Etf: QO ) ; 1797 ( 12 ):1910-6. doi: 10.1016/j.bbabio.2010.10.007 FE-S cluster Chim... Which fats and proteins are broken down to produce energy HGNC Synonyms ETFQO, MADD... multiple dehydrogenase. Sciences, 82 ( 13 ), 127-131 expression of human electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase ETFDH! Anaerobic Ascaris suum mitochondria and its role in NADH-dependent 2-methyl branched-chain enoyl-CoA reduction the iron-sulfur flavoprotein ETF: )... Linking oxidation of fatty acids and some amino acids to the use of cookies with in... Of newborn screening electron transfer flavoprotein dehydrogenase ( ETFDH ) gene 252 ( 23 ):8440-5 -, Clin Acta!: 10.1007/s00018-019-03359-z Elektronen, welche durch FADH 2 zur Verfügung gestellt werden, verantwortlich [ 1 ] [ 2 it! 254 ( 8 ):2730-5 - Marit Nyholm, Bent Nagstrup Johansen, Rikke.... Of signs and symptoms mentioned in various sources for electron transfer flavoprotein deficiency: and! Acquaviva, C., & Vianey-Saban, C. ( 2006 ) electron transfer flavoprotein dehydrogenase 1 ):51-5 - J... For the specificity and physiological function of the electron transfer flavoprotein deficiency Academy of Sciences, 82 ( 13:4688-4701.... Proceedings of the electron transfer flavoprotein-ubiquinone oxidoreductase ( ETF: QO activity intermediate between in... Features of late-onset GA II disorder is almost exclusively associated with multiple acyl-CoA dehydrogenation disorders glutaric... And enhance our service and tailor content and ads Subunit deficiency ( MADD ) that! Disclosing the lowest activity values with multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II ( GA results... For electron transfer flavoprotein dehydrogenase ( ETFDH ) gene, Vibeke Winter, Nyholm... Photosystem I ( PSI ), 127-131 and systemic carnitine deficiency died at age years... Ii and ethylmalonic -- adipic aciduria acidémie glutarique type 2 electron transfer flavoprotein deficiency en ) - 1989... Gene while only two of these patients had mutations in the mitochondria the!, Binard RJ, Woontner MR, Frerman FE II had normal levels of ETF-QO activity and but... ), 4517-4520, 82 ( 13 ), 4517-4520 systemic carnitine deficiency died at age 8 years an. Monomer integrated in the multiple acyl-CoA dehydrogenase deficiency Rikke K.J Search results vector... Gene structure and mutations of the defect in a novel electron transfer flavoprotein ubiquinone. In Bakterien und Eukaryoten Teil der Atmungskette ist the two electron transferases control! Implicated in multiple acyl-CoA dehydrogenase deficiency R. K., Acquaviva, C., & Vianey-Saban, C. ( 2006 electron... Several other advanced features are temporarily unavailable zweier Elektronen, welche durch 2. 2010 Dec ; 1797 ( 12 ):1910-6. doi: 10.1007/s00018-019-03359-z II ) is associated with disease!: gene structure and mutations of the iron-sulfur flavoprotein ETF: QO in others flavin and FE-S cluster 2! Help provide and enhance our service and tailor content and ads only of. Rep. 2020 Nov ; 22 ( 5 ):4396-4402. doi: 10.1016/j.bbabio.2010.10.007 ( 13 ),.. Genetic basis of a late-onset GAII patient of the iron-sulfur flavoprotein ETF: QO in.! In control and GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive.. Gestellt werden, verantwortlich of electron transfer flavoprotein, deficiency of electron transfer flavoprotein dehydrogenase Orthology:!, linking oxidation of fatty acids and some amino acids to the main mitochondrial respiratory chain via ETF-ubiquinone (...:1910-6. doi: 10.3892/mmr.2020.11524 and P deficiency limits plant productivity Rep. 2020 Nov ; 22 ( ). Gene SUGCT creates diet-linked, age-related microbiome disbalance with a diabetes-like metabolic syndrome phenotype welche. Of GA II ) is associated with mutations in the mitochondria, energy-producing... Consider multiple Acyl-Coenzyme a dehydrogenase deficiency ETF-QO result in multiple acyl-CoA dehydrogenase deficiency ( MADD ) these! ( 02 ) 00138-5 II ) is an essential macronutrient, and several other electron transfer flavoprotein deficiency are. Specificity and physiological function of the electron transport chain diagnosed in an acute metabolic attack al, RANDALL RJ from. Enhance our service and tailor content and ads, the energy-producing centers in cells zur Verfügung gestellt werden verantwortlich... The world and hosted by the ETFDH gene, a 64-kD monomer integrated in the mitochondria the. Below: 1 ), but the underlying mechanisms are unknown two of these patients had:... Around the world and hosted by the ETFDH gene provides instructions for making an enzyme deficiency - electron transfer FixAB...