Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency - Vantroys, Elise; Smet, Joél; Vanlander, Arnaud V.; Vergult, Sarah; De Bruyne, Ruth; Roels, Frank; Stepman, Hedwig; Roeyers, Herbert; Menten, Björn; Van Coster, Rudy (Orphanet journal of rare diseases, 2018)
Keywords: Amino Acyl-tRNA Synthetases - genetics; Amino Acyl-tRNA Synthetases - metabolism; Blotting, Western; Care and treatment; Child; Complications and side effects; Cytochrome; Cytochrome-c oxidase; Deficiency diseases; Deoxyribonucleic acid; Development and progression; Disease; Divalproex; DNA; DNA Polymerase gamma - genetics; Drug therapy; Electron Transport Complex IV - genetics; Electron Transport Complex IV - metabolism; Electrophoresis, Polyacrylamide Gel; Encephalopathy; Enzymes; Epilepsy; Exome - genetics; Female; Hepatocytes; Hepatotoxicity; Human Genetics; Humans; Immunoglobulins; Liver; Liver diseases; Medical research; Medicine; Medicine & Public Health; Microscopy; Mitochondria; Mitochondria - drug effects; Mitochondria - metabolism; Mitochondrial aminoacyl-tRNA synthetase; mitochondrial diseases; Mitochondrial Diseases - drug therapy; Mitochondrial Diseases - metabolism; Mitochondrial DNA; Mitochondrial tryptophanyl-tRNA synthetase; Mutation; Neonates; Neurologic manifestations of general diseases; Oxidative phosphorylation; Paralysis; Pharmacology/Toxicology; Phenotypes; Phosphorylation; Rare diseases; Semiconductors; Sodium; Sodium valproate; Spectrophotometry; tRNA; Tryptophan-tRNA ligase; Tryptophan-tRNA Ligase - deficiency; Tryptophan-tRNA Ligase - metabolism; Valproate; Valproic acid; Valproic Acid - therapeutic use; WARS2; Whole Exome Sequencing; Cytochrome; oxidase; Mitochondria; Mitochondrial tryptophanyl-tRNA synthetase; Mitochondrial aminoacyl-tRNA synthetase; Hepatotoxicity; Mosaic; WARS2; Valproate; Cytochrome c oxidase