N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Kasapkara C. S. , EZGÜ F. S. , OKUR İ., TÜMER L., BİBEROĞLU G., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS, vol.170, no.6, pp.799-801, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 170 Issue: 6
  • Publication Date: 2011
  • Doi Number: 10.1007/s00431-010-1362-9
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.799-801
  • Keywords: N-Carbamylglutamate, Neonatal hyperammonemia, Isovaleric acidemia
  • Gazi University Affiliated: Yes


Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as propionic, methylmalonic, and isovaleric acidemias. Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase. Oral carglumic acid (N-carbamylglutamate) administration can correct hyperammonemia in neonates with propionic and methylmalonic acidemias, thus avoiding dialysis therapy. Isovaleric acidemia is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase. For the first time, we report a neonate with isovaleric acidemia, whose plasma ammonia concentration dropped dramatically after one oral load of carglumic acid. This experience suggests that carglumic acid could be considered for acute hyperammonemia resulting from isovaleric acidemia. However, trials with more patients are needed.