Literature DB >> 26599579

Influence of glutamine synthetase gene polymorphisms on the development of hyperammonemia during valproic acid-based therapy.

Kazuyuki Inoue1, Toshiki Takahashi1, Yoshiaki Yamamoto2, Eri Suzuki1, Yukitoshi Takahashi2, Katsumi Imai2, Yushi Inoue2, Keita Hirai1, Daiki Tsuji1, Kunihiko Itoh3.   

Abstract

PURPOSE: Valproic acid (VPA), which is widely used to treat epilepsy, migraine, and bipolar disorder, can causes severe hyperammonemia. However, the mechanism responsible for this adverse effect is not readily apparent. We previously reported that phenytoin coadministration is a strong risk factor for the development of hyperammonemia during VPA-based therapy. In this study, we focused on glutamine synthetase, which catalyzes the synthesis of glutamine from glutamate and ammonia and examined the association with the development of hyperammonemia during VPA-based therapy.
METHODS: For this study, we recruited 202 Japanese pediatric patients having epilepsy. We selected three polymorphisms (rs10911070, rs10797771, and rs10911021) in the glutamine synthetase (GLUL) gene. Hyperammonemia was defined as a plasma ammonia level exceeding 200 or 170 μg/dL. We evaluated the association between the development of hyperammonemia during VPA-based therapy and the patient characteristics, including three GLUL polymorphisms.
RESULTS: The number of patients who developed hyperammonemia during VPA-based therapy was 20 (9.9%) using the 200 μg/dL cutoff value and 30 (14.9%) using the 170 μg/dL cutoff value. Using a multivariate logistic regression analysis, the GLUL rs10797771 polymorphism and phenytoin coadministration in the 200 μg/dL cutoff value, and female in addition to two factors in the 170 μg/dL cutoff value, had significant associations with a plasma ammonia level elevation during VPA-based therapy.
CONCLUSION: Phenytoin coadministration, GLUL rs10797771 polymorphism in the 200μg/dL cutoff value, and female in addition to two factors in the 170μg/dL cutoff value, are independent risk factors for elevated plasma ammonia levels during VPA-based therapy.
Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Epilepsy; Glutamine synthetase; Hyperammonemia; Polymorphism; Valproic acid

Mesh:

Substances:

Year:  2015        PMID: 26599579     DOI: 10.1016/j.seizure.2015.10.015

Source DB:  PubMed          Journal:  Seizure        ISSN: 1059-1311            Impact factor:   3.184


  3 in total

Review 1.  Valproic acid-induced hyperammonemic encephalopathy in a full-term neonate: a brief review and case report.

Authors:  Pavla Pokorná; Karolina Hronová; Martin Šíma; Ondřej Slanař; Petr Klement; John N van den Anker; Dick Tibboel
Journal:  Eur J Clin Pharmacol       Date:  2017-02-06       Impact factor: 2.953

Review 2.  Roles of renal ammonia metabolism other than in acid-base homeostasis.

Authors:  I David Weiner
Journal:  Pediatr Nephrol       Date:  2016-05-12       Impact factor: 3.714

Review 3.  The pharmacogenomics of valproic acid.

Authors:  Miao-Miao Zhu; Hui-Lan Li; Li-Hong Shi; Xiao-Ping Chen; Jia Luo; Zan-Ling Zhang
Journal:  J Hum Genet       Date:  2017-09-07       Impact factor: 3.172

  3 in total

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