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.

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.

• Authors: Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 3 Pg. 2 (Jan 30 2008) ISSN: 1750-1172 [Electronic] England
• PMID: 18234091 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutamates
• Propionates
• carglumic acid
• Methylmalonic Acid

Topics

• Amino Acid Metabolism, Inborn Errors (complications, drug therapy, urine)
• Female
• Glutamates (pharmacology)
• Humans
• Hyperammonemia (drug therapy)
• Infant, Newborn
• Methylmalonic Acid (urine)
• Propionates (urine)