A case of adult-onset type II citrullinemia induced by hospital diet
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- 作者：Akira Ueda (1) (2)
Kazuhiko Okada (2)
Terumi Takahara (1)
Keiichi Iwasa (2)
Kazuko Shinagawa (2)
Akio Entani (2)
Syuji Inatsuchi (2)
Takayuki Ando (1)
Haruka Fujinami (1)
Kazuto Tajiri (1)
Yoshiharu Tokimitsu (1)
Kohei Ogawa (1)
Takayoshi Miyazono (1)
Takako Miyazaki (1)
Jun Murakami (1)
Ayumu Hosokawa (1)
Satoshi Yasumura (1)
Masami Minemura (1)
Takahiko Kudo (1)
Toshiro Sugiyama (1) - 关键词：CTLN2 ; SLC25A13 ; Citrin ; Hepatic encephalopathy ; Hyperammonemia ; Citrullinemia
- 刊名：Clinical Journal of Gastroenterology
- 出版年：2011
- 出版时间：February 2011
- 年：2011
- 卷：4
- 期：1
- 页码：28-33
- 全文大小：373KB
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28. Iwasaki K, Senda R, Suzuki S, Tsuji Y, Kogawa K, Takayanagi M, et al. A case of citrullinemia occurred with loss of consciousness and vomiting at 5 years old (in Japanese). J Jpn Pediatr Soc. 2006;110:229 - 作者单位：Akira Ueda (1) (2)
Kazuhiko Okada (2)
Terumi Takahara (1)
Keiichi Iwasa (2)
Kazuko Shinagawa (2)
Akio Entani (2)
Syuji Inatsuchi (2)
Takayuki Ando (1)
Haruka Fujinami (1)
Kazuto Tajiri (1)
Yoshiharu Tokimitsu (1)
Kohei Ogawa (1)
Takayoshi Miyazono (1)
Takako Miyazaki (1)
Jun Murakami (1)
Ayumu Hosokawa (1)
Satoshi Yasumura (1)
Masami Minemura (1)
Takahiko Kudo (1)
Toshiro Sugiyama (1)
1. Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan
2. Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan
文摘
A 47-year-old Japanese man was first admitted to our hospital for 8?days because of an asthma attack. After discharge he changed his diet. On the 12th day after his discharge, he was re-admitted to our hospital because he exhibited transient loss of consciousness with flapping tremor. His plasma ammonia level was extremely high (245?μg/dL; normal, <90?μg/dL), suggesting hepatic encephalopathy. He underwent intravenous administration of branched-chain amino acids (Aminoleban?) and oral administration of lactulose and kanamycin sulfate; however, the hyperammonemia did not improve. Analysis of the amino acids and citrin gene led to the diagnosis of adult-onset type II citrullinemia (CTLN2). Following this diagnosis, the carbohydrate content of his diet was mildly restricted. As a result, his plasma ammonia level markedly improved (ammonia, 40-0?μg/dL) and he became symptom-free without any medication. CTLN2 is a metabolic disorder characterized by increased plasma concentrations of citrulline and ammonia, which occurs by the failure of compensatory mechanisms associated with diet. Here, we report a case of a patient for whom a change in eating habits during his hospitalization disturbed his compensatory mechanism resulting in clinical CTLN2, which was reversed with an appropriate diet.