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

Vantroys, Elise; Smet, Joél; Vanlander, Arnaud V; Vergult, Sarah; De Bruyne, Ruth; Roels, Frank; Stepman, Hedwig; Roeyers, Herbert; Menten, Björn; Van Coster, Rudy.

Afiliación

Vantroys E; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Smet J; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Vanlander AV; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
Vergult S; Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium.
De Bruyne R; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ghent University Hospital, Ghent, Belgium.
Roels F; Department of Pathology, Ghent University Hospital, Ghent, Belgium.
Stepman H; Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium.
Roeyers H; Department of Experimental Clinical and Health Psychology, Ghent University, Ghent, Belgium.
Menten B; Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium.
Van Coster R; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. rudy.vancoster@ugent.be.

Orphanet J Rare Dis ; 13(1): 80, 2018 05 21.

Article en En | MEDLINE | ID: mdl-29783990

Asunto(s)

Mitocondrias/metabolismo; Triptófano-ARNt Ligasa/deficiencia; Triptófano-ARNt Ligasa/metabolismo; Ácido Valproico/uso terapéutico; Aminoacil-ARNt Sintetasas/genética; Aminoacil-ARNt Sintetasas/metabolismo; Western Blotting; Niño; ADN Polimerasa gamma/genética; Complejo IV de Transporte de Electrones/genética; Complejo IV de Transporte de Electrones/metabolismo; Electroforesis en Gel de Poliacrilamida; Exoma/genética; Femenino; Humanos; Mitocondrias/efectos de los fármacos; Enfermedades Mitocondriales/tratamiento farmacológico; Enfermedades Mitocondriales/metabolismo; Secuenciación del Exoma

Palabras clave

Cytochrome c oxidase; Hepatotoxicity; Mitochondria; Mitochondrial aminoacyl-tRNA synthetase; Mitochondrial tryptophanyl-tRNA synthetase; Mosaic; Valproate; WARS2

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Triptófano-ARNt Ligasa / Ácido Valproico / Mitocondrias Límite: Child / Female / Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Reino Unido

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