Article
A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.
PloS one - 1 Jan 2013
Gauthier Nicolas, Wu Jiang Wei, Wang Shu Pei, Allard Pierre, Mamer Orval A, Sweetman Lawrence, Moser Ann B, Kratz Lisa, Alvarez Fernando, Robitaille Yves, Lépine François, Mitchell Grant A
Abstract excerpt
Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-coenzyme A (CoA) esters in mitochondria. The role of acyl-CoAs in the pathophysiology of these disorders is poorly understood, in part because CoA esters are intracellular and samples are not generally available from human patients. We created a mouse model of one such condition, deficiency of...
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