N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.

Abstract

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.

• Authors: Cigdem Seher Kasapkara, Fatih Suheyl Ezgu, Ilyas Okur, Leyla Tumer, Gursel Biberoglu, Alev Hasanoglu
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 170 Issue 6 Pg. 799-801 (Jun 2011) ISSN: 1432-1076 [Electronic] Germany
• PMID: 21207059 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutamates
• N-carbamylglutamate
• Ammonia
• Isovaleryl-CoA Dehydrogenase

Topics

• Acute Disease
• Amino Acid Metabolism, Inborn Errors (blood)
• Ammonia (blood)
• Glutamates (administration & dosage)
• Humans
• Hyperammonemia (blood, drug therapy)
• Infant, Newborn
• Isovaleryl-CoA Dehydrogenase (blood, deficiency, drug effects)
• Male
• Treatment Outcome