Article
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
Pediatric research - 1 Jul 2009
de Keyzer Yves, Valayannopoulos Vassili, Benoist Jean-François, Batteux Frédéric, Lacaille Florence, Hubert Laurence, Chrétien Dominique, Chadefeaux-Vekemans Bernadette, Niaudet Patrick, Touati Guy, Munnich Arnold, de Lonlay Pascale
Abstract excerpt
We investigated respiratory chain (RC), tricarboxylic acid cycle (TCA) enzyme activities, and oxidative stress in the tissues of six patients with organic aciduria (OA) presenting various severe complications to further document the role of mitochondrial OXPHOS dysfunction in the development of complications. Two children with propionic acidemia (PA), presenting a severe cardiomyopathy, and four with...
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