Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study


Creative Commons License

VALAYANNOPOULOS V., BARUTEAU J., DELGADO M. B. , CANO A., COUCE M. L. , DEL TORO M., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.11, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 11
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1186/s13023-016-0406-2
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES

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.