Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of...
Citation: Orphanet Journal of Rare Diseases 2008 3:2