Riboflavin-responsive complex I deficiency
نویسندگان
چکیده
منابع مشابه
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two flavoproteins, electron transfer flavoprotein (ETF) or ETF: ubiquinone oxidoreductase (ETF:QO). Some patients respond to pharmacological doses of riboflavin. It is unknown whether these patients have defects in the flavoproteins themselves or def...
متن کاملCellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.
Mitochondrial dysfunction and oxidative stress are central to the molecular pathology of many human diseases. Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency (RR-MADD) is in most cases caused by variations in the gene coding for electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). Currently, patients with RR-MADD are treated with high doses of riboflavin resulti...
متن کاملRiboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases
Mitochondria are the repository for various metabolites involved in diverse energy-generating processes, like the TCA cycle, oxidative phosphorylation, and metabolism of amino acids, fatty acids, and nucleotides, which rely significantly on flavoenzymes, such as oxidases, reductases, and dehydrogenases. Flavoenzymes are functionally dependent on biologically active flavin adenine dinucleotide (...
متن کاملRegulation of riboflavin-metabolizing enzymes in riboflavin deficiency.
FASS, STEVEN, AND RICHARD S. RIVLIN. Regulation of riboflavinmetabolizing enzymes in ribuj?auin de_ficiency. Am, J. Physiol. 217(4) : 988-99 1. 1969.-The effects of riboflavin deficiency in rats on the hepatic activities of flavokinase, FAD pyrophosphorylase, and FMN phosphatase, three enzymes involved in riboflavin metabolism, have been measured and compared to the hepatic concentrations of FA...
متن کاملSecondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
Coenzyme Q10 (CoQ10) is essential for the energy production of the cells and as an electron transporter in the mitochondrial respiratory chain. CoQ10 links the mitochondrial fatty acid β-oxidation to the respiratory chain by accepting electrons from electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). Recently, it was shown that a group of patients with the riboflavin responsive f...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 1995
ISSN: 0925-4439
DOI: 10.1016/0925-4439(95)00013-t