Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Virginie Levrat¹ , Isabelle Forest¹ , Alain Fouilhoux¹ , Cécile Acquaviva² , Christine Vianey-Saban² and Nathalie Guffon¹

¹Centre de référence Maladies Héréditaires du Métabolisme, Service de Pédiatrie, Hôpital Edouard Herriot, Lyon, France

²Service des Maladies héréditaires du métabolisme et dépistage néonatal, Centre de biologie et de pathologie Est, Lyon, France

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Orphanet Journal of Rare Diseases 2008, 3:2doi:10.1186/1750-1172-3-2


Published:	30 January 2008

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.

Case presentation

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.

Conclusion

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.