Carglumic acid in hyperammonaemia due to organic acidurias: a profile of its use in the EU

Abstract

Carglumic acid (N-carbamylglutamate; Carbaglu®), a structural analog of N-acetylglutamate, is an effective and generally well-tolerated option for the treatment of hyperammonaemia due to propionic, methylmalonic and isovaleric acidurias. These organic acidurias are linked to a group of autosomal recessive inherited disorders that are associated with secondary hyperammonaemia due to the inhibition of the urea cycle. Carglumic acid can be administered orally or through a nasogastric tube. In retrospective, observational studies and case series/reports, carglumic acid rapidly reduced plasma ammonia levels and improved clinical symptoms of hyperammonaemia. Carglumic acid is generally well tolerated, and, based on limited data, may be associated with fewer treatment-emergent adverse events when used in combination with ammonia scavengers than when either therapy is administered alone.