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

• Main Authors: Guffon Nathalie, Vianey-Saban Christine, Acquaviva Cécile, Fouilhoux Alain, Forest Isabelle, Levrat Virginie
• Format: Article
• Language: English
• Published: BMC 2008-01-01
• Series: Orphanet Journal of Rare Diseases
• Online Access: http://www.ojrd.com/content/3/1/2

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Case presentation</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>