Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

M. Abacan, A. Boneh

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8 Citations (Scopus)


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 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.

Original languageEnglish
Pages (from-to)397-401
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number4
Publication statusPublished - Aug 2013
Externally publishedYes


  • Carglumic acid
  • Hyperammonaemia
  • Propionic acidaemia

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