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. 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. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1989 , 975 (1) , 127-131. 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 … Multiple Acyl Coenzyme A Dehydrogenase Deficiency: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). The clinical spectrum ranges from a fatal multisystem disease of infancy to a less severe disorder in which symptoms emerge in adolescence or adult life. 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]. The severity of symptoms depends on the level of deficiency. Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. Schiff, M., Froissart, R., Olsen, R. K., Acquaviva, C., & Vianey-Saban, C. (2006). The severity of symptoms depends on the level of deficiency. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Epub 2020 Sep 18. Peter Bross, Palle Pedersen, Vibeke Winter, Marit Nyholm, Bent Nagstrup Johansen, Rikke K.J. 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 … Electron Transfer Flavoprotein Deficiency (n.). Clipboard, Search History, and several other advanced features are temporarily unavailable. 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 The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE-S cluster. Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (EC: 1.5.5.1 ) Short name: ETF-QO. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values.  |  NIH The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. It catalyzes ubiquinone (UQ) reduction by ETF, linking oxidation of fatty acids and some amino acids to the mitochondrial respiratory chain. Would you like email updates of new search results? Almost every ATP producing Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase 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. 1976 Jan 16;66(2):227-39 Copyright © 2006 Elsevier Inc. All rights reserved. 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. 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. 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). Deficiency … Das Elektronentransferierende Flavoprotein (abgekürzt ETF) ist ein Komplex aus zwei Proteinketten, der in Bakterien und Eukaryoten Teil der Atmungskette ist. Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. Goodman SI, Binard RJ, Woontner MR, Frerman FE. Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. 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). 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]. Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 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. tron (ĭ-lĕk′trŏn′) n. Abbr. Fibroblasts … Deficiencies in ETF or ETF-QO result in multiple acyl-CoA dehydrogenase deficiency, a human metabolic disease. 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) 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. Das Heterodimer aus ETF-α und ETF-β ist dort für den Transport zweier Elektronen, welche durch FADH 2 zur Verfügung gestellt werden, verantwortlich. ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta- (28kDa) subunits encoded by the ETFA and ETFB genes, respectively.  |  The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient. By continuing you agree to the use of cookies. Fibroblasts from two other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. https://doi.org/10.1016/j.ymgme.2006.01.009. Abstract. 1979 Apr 25;254(8):2730-5 An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1) We use cookies to help provide and enhance our service and tailor content and ads. Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. -, Clin Chim Acta. ScienceDirect ® is a registered trademark of Elsevier B.V. ScienceDirect ® is a registered trademark of Elsevier B.V. Electron transfer flavoprotein deficiency: Functional and molecular aspects, Multiple acyl-CoA dehydrogenase deficiency. These findings show that GA II results from a deficiency of ETF in some patients and ETF:QO in others. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Proceedings of the National Academy of Sciences, 82(13), 4517-4520. Brain Dev 24:675–680 … They can be functionally classified into constitutive, "housekeeping" ETFs, mainly involved in the oxidation of fatty acids (Group I), and ETFs produced by so… Case reports. 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. eCollection 2019. Epub 2019 Nov 13. COVID-19 is an emerging, rapidly evolving situation. Fibroblasts from parents of two of these patients had ETF:QO activity intermediate between activities in control fibroblasts and fibroblasts from the patients. 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. -. 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 … Biochim Biophys Acta.  |  Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. Electron transfer flavoprotein deficiency: functional and molecular aspects. 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]. 1. Electron Transfer Flavoprotein Beta Subunit Deficiency (n.). Glutaric acidemia type II (GA II) is a human genetic disorder. Epub 2018 Feb 9. 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. Symptoms of Electron Transfer Flavoprotein, deficiency of. 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). -, FEBS Lett. Frerman, F.E. 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). 2018 Mar 30;293(13):4688-4701. doi: 10.1074/jbc.RA117.000707. The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. 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. The systematic application of newborn screening Electron transfer flavoprotein ubiquinone oxidoreductase deficiency. Edit. 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. Definition of Electron transfer flavoprotein deficiency in the Medical Dictionary by The Free Dictionary Fibroblasts from three unrelated GA II patients were deficient in immunologically detectable ETF:QO and extracts from these three fibroblast lines contained no detectable ETF:QO catalytic activity. 1. flavoprotein: [ fla″vo-pro´tēn ] a conjugated protein containing a flavin nucleotide. 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). In humans, it is encoded by the ETFDH gene. J Biol Chem. 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 … J Inherit Metab Dis. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect. 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). Simkovic M, Degala GD, Eaton SS, Frerman FE. J Biol Chem. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. 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). 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 … Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness. 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). Late onset … 1 Introduction. Sci. 2002 Jun 15;364(Pt 3):659-67. doi: 10.1042/BJ20020042. 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. … Related information in OMIM. Frerman, Frank E.; Goodman, Stephen I. Abstract. Copyright © 2021 Elsevier B.V. or its licensors or contributors. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Metabolic acidosis; Low blood sugar Mol Genet Metab 88:153–158 PubMed CrossRef Google Scholar. 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. [1] [2] It is part of the electron transport chain. ETF is a mitochondrial matrix protein consisting of α- (30 kDa) and β- (28 kDa) subunits encoded by the ETFA and ETFB genes, respectively. Crystal … 1976 Mar 15;63(1):51-5 The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. Glutaric acidemia type II (GA II) is a human genetic disorder. and Goodman, S.I. Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. Biochimica et Biophysica electron transfer flavoprotein deficiency ( BBA ) - Bioenergetics 1989, 975 ( 1 ):51-5 - Clin! Apr 25 ; 254 ( 8 ):2730-5 - K., Acquaviva, (... Sep 10 ; 252 ( 23 ):8440-5 -, Clin Chim Acta now, the energy-producing centers in.... 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