%0 Journal Article
%T Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
%A Agustin Molina
%A Aline Cano
%A Angeles Garcia-Cazorla
%A Anupam Chakrapani
%A Celine Plisson
%A David Gil-Ortega
%A Floris C. Hofstede
%A Francesco Papadia
%A Jeannie Le Mouhaer
%A Julien Baruteau
%A Mahmut Coker
%A Maria Alice Donati
%A Maria Bueno Delgado
%A Maria L. Couce
%A Mercedes Martinez-Pardo Casanova
%A Mireia Del Toro
%A Nathalie Guffon
%A Patricia Rosello
%A Pedro Gomez-de Quero
%A Rosa Lama-More
%A Samia Pichard
%A Sema Kalkan-Ucar
%A Vassili Valayannopoulos
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0406-2
%X Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is required to prevent neurological complications. This retrospective, multicentre, open-label, uncontrolled, phase IIIb study evaluated the efficacy and safety of carglumic acid, a synthetic structural analogue of NAG, for treating hyperammonaemia during OA decompensation
%K Carglumic acid
%K Hyperammonaemia
%K Organic acidurias (OAs)
%K OA decompensation episodes
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815113/