A 70-year-old male who developed ornithine transcarbamylase (OTC) deficiency that progressed rapidly and caused death: a case report-Reference-Cited by-同舟云学术

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A 70-year-old male who developed ornithine transcarbamylase (OTC) deficiency that progressed rapidly and caused death: a case report

Published:2022-03-01 Issue:2 Volume:29 Page:147-148
ISSN:1340-7988
Container-title:Journal of the Japanese Society of Intensive Care Medicine
language:en
Short-container-title:Nihon Shuchu Chiryo Igakukai zasshi

Author:

Mizuyama Hayato¹,Shimauch Ryo¹,Takeuchi Hiroyuki¹

Affiliation:

1. Department of Anesthesiology and Intensive Care Unit, Fukuoka Kinen Hospital

Publisher

Japanese Society of Intensive Care Medicine

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/jsicm/29/2/29_29_147/_pdf

Reference10 articles.

1. 1) 難病情報センター：尿素サイクル異常症．［cited 2020 Aug 1］．Available from: https://www.nanbyou.or.jp/entry/4732

2. 2) Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 1998;21 Suppl 1:151-9.

3. 3) Yoshino M, Nishiyori J, Yamashita F, et al. Ornithine transcarbamylase deficiency in male adolescence and adulthood. Enzyme 1990;43:160-8.

4. 4) 三谷英範，望月俊明，大谷典生，他．19歳で発症したornithine transcarbamylase（OTC）欠損症により急性脳浮腫を来した1例．日救急医会誌 2014;25:833-8.

5. 5) Rangroo Thrane V, Thrane AS, Wang F, et al. Ammonia triggers neuronal disinhibition and seizures by impairing astrocyte potassium buffering. Nat Med 2013;19:1643-8.

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