title: Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
abstract: BACKGROUND
  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 carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels encountered in MMA and PA crises.
  
  
  METHODS
  We described two patients (one with MMA and one with PA) with hyperammonemia at diagnosis. Carglumic acid, when associated with standard treatment of organic acidurias, may be helpful in normalizing the ammonia level.
  
  
  CONCLUSIONS
  Even though the usual treatment which decreases toxic metabolites remains the standard, carglumic acid could be helpful in lowering plasma ammonia levels over 400 micromol/L more rapidly.
authors.affiliation: Centre de référence Maladies Héréditaires du Métabolisme, Service de Pédiatrie, Hôpital Edouard Herriot, Lyon, France. virginie.levrat@chu-lyon.fr
authors.forename: Virginie
authors.initials: V
authors.lastname: Levrat
authors.forename: Isabelle
authors.initials: I
authors.lastname: Forest
authors.forename: Alain
authors.initials: A
authors.lastname: Fouilhoux
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guffon
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy* / Q000652:urine; D005260:Female; D005971:Glutamates / Q000494:pharmacology*; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy*; D007231:Infant, Newborn; D008764:Methylmalonic Acid / Q000652:urine; D011422:Propionates / Q000652:urine
chemical_list: D005971:Glutamates; D011422:Propionates; C528449:carglumic acid; D008764:Methylmalonic Acid