Mitochondrial Oxidative Phosphorylation Disorder Due To Nuclear Dna Anomalies

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

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Drugs

(S)-6-hydroxy-2,5,7,8-tetramethyl-N-((R)-piperidin-3-yl)chroman-2-carboxamide hydrochloride, 4,5-dihydro-2-(2,4-dihydroxyphenyl)-4-methylthiazole-4(S)-carboxylic acid, Adenoassociated virus vector (AAV) carrying a modified AAV serotype 2 backbone and coding sequence of human thymidine phosphorylase preceded by a human thyroxin-binding globulin promoter, Alpha-tocotrienol quinone ( VINCERINONE ), Deferiprone ( FERRIPROX, DEFERIPRONE LIPOMED ), Recombinant thymidine phosphorylase encapsulated in autologous erythrocytes, Thymidine and deoxycytidine, Ubiquinol, Vector based on an adeno-associated virus serotype 2 backbone, pseudo-serotyped with a type 8 capsid, which carries the coding sequence of the human TYMP gene under the control of the human thyroxine binding globulin promoter

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Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).