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

M. Abacan, A. Boneh

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

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 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
Volume109
Issue number4
DOIs
Publication statusPublished - Aug 2013
Externally publishedYes

Keywords

  • Carglumic acid
  • Hyperammonaemia
  • Propionic acidaemia

Cite this

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Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. / Abacan, M.; Boneh, A.

In: Molecular Genetics and Metabolism, Vol. 109, No. 4, 08.2013, p. 397-401.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

AU - Abacan, M.

AU - Boneh, A.

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