Perioperative exacerbation of valproic acid-associated hyperammonemia: A clinical and genetic analysis

Dmitri Bezinover, Marek Postula, Kathleen Donahue, Brian Bentzen, James McInerney, Piotr K. Janicki

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

We present a case of significant deterioration of chronic hyperammonemia after general anesthesia for neurosurgery despite aggressive treatment. Preoperative evaluation demonstrated that hyperammonemia was most likely related to valproic acid treatment. Genomic analysis revealed that the patient was heterozygotic for a missense polymorphism in the carbamoyl phosphate synthase 1 gene (4217C>A, rs1047891). This mutation was previously suggested to be associated with chronic hyperammonemia. Replacement of threonine with asparagine decreases the activity of carbamoyl phosphate synthase in the urea cycle. Genetic screening can potentially identify a population at risk before initiation of antiepileptic therapy.

Original languageEnglish (US)
Pages (from-to)858-861
Number of pages4
JournalAnesthesia and analgesia
Volume113
Issue number4
DOIs
StatePublished - Oct 2011

All Science Journal Classification (ASJC) codes

  • Anesthesiology and Pain Medicine

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