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.

Abstract

Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n=3) during episodes of metabolic decompensation (n=8; age range: birth to 4years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19h. Carglumic acid was well tolerated with no side effects noted.

Keywords: Carglumic acid; Hyperammonaemia; Propionic acidaemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors
  • Ammonia / blood
  • Carnitine / blood
  • Child, Preschool
  • Female
  • Glutamates / administration & dosage*
  • Glutamates / adverse effects
  • Humans
  • Hyperammonemia / complications
  • Hyperammonemia / drug therapy*
  • Hyperammonemia / pathology
  • Infant
  • Infant, Newborn
  • Male
  • Methylmalonyl-CoA Decarboxylase / genetics*
  • Methylmalonyl-CoA Decarboxylase / metabolism
  • Propionic Acidemia / complications
  • Propionic Acidemia / drug therapy*
  • Propionic Acidemia / pathology

Substances

  • Glutamates
  • carglumic acid
  • Ammonia
  • Methylmalonyl-CoA Decarboxylase
  • Carnitine