N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia
- PMID: 15877213
- DOI: 10.1007/s10545-005-5260-7
N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia
Abstract
In patients with propionic aciduria, the accumulating metabolite propionyl-CoA causes a disturbance of the urea cycle via the inhibition of N-acetylglutamate synthesis. Lack of this allosteric activator results in an inhibition of carbamoylphosphate synthase (CPS). This finally leads to hyperammonaemia. In two patients with decompensated propionic aciduria the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl-CoA associated hyperammonaemia. Oral carbamyl glutamate administration resulted in a significant increase in ammonia detoxification and could avoid further dialysis therapy. Safe, fast and easy to administer, carbamyl glutamate improves the acute therapy of decompensated propionic aciduria by increasing ammonia detoxification and avoiding hyperammonaemia.
Similar articles
-
N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria.Mol Genet Metab. 2003 Aug;79(4):303-4. doi: 10.1016/s1096-7192(03)00095-7. Mol Genet Metab. 2003. PMID: 12948747
-
N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S219-22. doi: 10.1007/s10545-008-0777-1. Epub 2008 Feb 21. J Inherit Metab Dis. 2008. PMID: 18338235
-
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.Mol Genet Metab. 2013 Aug;109(4):397-401. doi: 10.1016/j.ymgme.2013.05.018. Epub 2013 Jun 6. Mol Genet Metab. 2013. PMID: 23791308
-
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet J Rare Dis. 2018 Dec 6;13(1):219. doi: 10.1186/s13023-018-0963-7. Orphanet J Rare Dis. 2018. PMID: 30522498 Free PMC article. Review.
-
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. J Inherit Metab Dis. 2006. PMID: 16763906 Review.
Cited by
-
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.Pediatrics. 2010 Jul;126(1):e208-14. doi: 10.1542/peds.2010-0008. Epub 2010 Jun 21. Pediatrics. 2010. PMID: 20566609 Free PMC article. Clinical Trial.
-
N-acetylglutamate synthase: structure, function and defects.Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20303810 Free PMC article. Review.
-
N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.Eur J Pediatr. 2011 Jun;170(6):799-801. doi: 10.1007/s00431-010-1362-9. Epub 2011 Jan 5. Eur J Pediatr. 2011. PMID: 21207059
-
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y. BMC Pediatr. 2019. PMID: 31196016 Free PMC article.
-
New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Int J Gen Med. 2011 Jan 7;4:21-8. doi: 10.2147/IJGM.S10490. Int J Gen Med. 2011. PMID: 21403788 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources