Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Makaleler > Tam Makale · 2016
Yazarlar: Vassili VALAYANNOPOULOS, Julien BARUTEAU, Maria Bueno DELGADO, Aline CANO, Maria L. COUCE, Mireia DEL TORO, Maria Alice DONATI, Angeles GARCIA-CAZORLA, David GIL-ORTEGA, Pedro GOMEZ-DE QUERO, Nathalie GUFFON, Floris C. HOFSTEDE, Sema KALKAN UÇAR, Mahmut ÇOKER, Rosa LAMA-MORE, Mercedes Martinez-Pardo CASANOVA, Agustin MOLINA, Samia PICHARD, Francesco PAPADIA, Patricia ROSELLO, Celine PLISSON, Jeannie LE MOUHAER, Anupam CHAKRAPANI
ORPHANET JOURNAL OF RARE DISEASES, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 11, ss 32-32
DOI: 10.1186/s13023-016-0406-2
Özet
Background: 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.