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

doi:10.1213/ANE.0b013e318228a001

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

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14 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 language	English (US)
Pages (from-to)	858-861
Number of pages	4
Journal	Anesthesia and analgesia
Volume	113
Issue number	4
DOIs	https://doi.org/10.1213/ANE.0b013e318228a001
State	Published - Oct 2011

All Science Journal Classification (ASJC) codes

Anesthesiology and Pain Medicine

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10.1213/ANE.0b013e318228a001

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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.",

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AU - Bezinover, Dmitri

AU - Postula, Marek

AU - Donahue, Kathleen

AU - Bentzen, Brian

AU - McInerney, James

AU - Janicki, Piotr K.

PY - 2011/10

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N2 - 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.

AB - 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.

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

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