Article
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
European journal of human genetics : EJHG - 1 Mar 2016
Asencio Claudio, Rodríguez-Hernandez María A, Briones Paz, Montoya Julio, Cortés Ana, Emperador Sonia, Gavilán Angela, Ruiz-Pesini Eduardo, Yubero Dèlia, Montero Raquel, Pineda Mercedes, O'Callaghan María M, Alcázar-Fabra María, Salviati Leonardo, Artuch Rafael, Navas Plácido
Abstract excerpt
Coenzyme Q10 (CoQ10) deficiency is associated to a variety of clinical phenotypes including neuromuscular and nephrotic disorders. We report two unrelated boys presenting encephalopathy, ataxia, and lactic acidosis, who died with necrotic lesions in different areas of brain. Levels of CoQ10 and complex II+III activity were increased in both skeletal muscle and fibroblasts, but it was a consequence of higher...
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