We report here two adult cases with ETF-QO deficiency, … Please enable it to take advantage of the complete set of features! Recent work showed that P deficiency affects electron transport to photosystem I (PSI), but the underlying mechanisms are unknown. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values. Frerman, Frank E.; Goodman, Stephen I. Abstract. 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. The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. 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. This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and multisystem dysfunctions. 1977 Dec 10;252(23):8440-5 -, Clin Chim Acta. 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]. NIH Peter Bross, Palle Pedersen, Vibeke Winter, Marit Nyholm, Bent Nagstrup Johansen, Rikke K.J. Symptoms begin more often in childhood or in young adulthood with a multisystemic disease with encephalopathy or muscular weakness. 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, mitochondrial (EC: 1.5.5.1 ) Short name: ETF-QO. Mol Med Rep. 2020 Nov;22(5):4396-4402. doi: 10.3892/mmr.2020.11524. Phosphorus (P) is an essential macronutrient, and P deficiency limits plant productivity. Schiff M, Froissart R, Olsen R et al (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Symptoms of Electron Transfer Flavoprotein, deficiency of. The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE-S cluster. [Google Scholar] LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. Almost every ATP producing The antisera were used to detect the two electron transferases in control and GA II fibroblasts by immunoblotting. 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). In addition, these investigations provide strong evidence for the specificity and physiological function of the iron-sulfur flavoprotein ETF:QO. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. 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 male infant with glutaric aciduria II secondary to electron transfer flavoprotein: ubiquinone oxidoreductase deficiency is compared to previously reported cases of glutaric aciduria II. 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-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. 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). This site needs JavaScript to work properly. 1976 Jan 16;66(2):227-39 Distinct properties underlie flavin-based electron bifurcation in a novel electron transfer flavoprotein FixAB from, Nature. 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. | 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 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. Many patients with late onset of MADD improve when treated with … Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect. Sci. Deficiency … 1951 Nov; 193 (1):265–275. COVID-19 is an emerging, rapidly evolving situation. 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). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain. 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. 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. Frerman, F.E. Elle intervient de ce fait dans la chaîne respiratoire. Keywords: Electron Transfer Flavoprotein Dehydrogenase, Deficiency, Pharmacological anesthetic agents Background Mitochondria are the energy producing organelles practic-ally in every human cell except erythrocytes. -. 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) 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). 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 … We use cookies to help provide and enhance our service and tailor content and ads. 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). 1984; 7 (Suppl 2):99–100. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). 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. 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. Late onset … 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. Copyright © 2006 Elsevier Inc. All rights reserved. Natl. 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. In humans, it is encoded by the ETFDH gene. eCollection 2019. 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. Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a 4Fe4S flavoprotein located in the inner mitochondrial membrane. tron (ĭ-lĕk′trŏn′) n. Abbr. 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. HHS J Biol Chem. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Electron transfer flavoprotein ubiquinone oxidoreductase deficiency. A child with myopathy and systemic carnitine deficiency died at age 8 years in an acute metabolic attack. Glutaric acidemia type II (GA II) is a human genetic disorder. 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. 1979 Apr 25;254(8):2730-5 Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy. 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 … Case reports. Schiff, M., Froissart, R., Olsen, R. K., Acquaviva, C., & Vianey-Saban, C. (2006). Clinically patients develop encephalopathy, muscle weakness, myopathy, rhabdomyolysis, cardiomyopathy and are extremely susceptible to … 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). Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. 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. The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient. Epub 2018 Feb 9. 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)
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