Article
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
BMC pediatrics - 8 Nov 2014
Yubero Delia, O'Callaghan Mar, Montero Raquel, Ormazabal Aida, Armstrong Judith, Espinos Carmina, Rodríguez Maria A, Jou Cristina, Castejon Esperanza, Aracil Maria A, Cascajo Maria V, Gavilan Angela, Briones Paz, Jimenez-Mallebrera Cecilia, Pineda Mercedes, Navas Plácido, Artuch Rafael
Abstract excerpt
BACKGROUND: It has been demonstrated that glucose transporter (GLUT1) deficiency in a mouse model causes a diminished cerebral lipid synthesis. This deficient lipid biosynthesis could contribute to secondary CoQ deficiency. We report here, for the first time an association between GLUT1 and coenzyme Q10 deficiency in a pediatric patient. CASE PRESENTATION: We report a 15 year-old girl with truncal ataxia,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.