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