title: A case of adult-onset type II citrullinemia induced by hospital diet.
abstract: 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, 40-60 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.
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.|Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ueda
authors.affiliation: Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Okada
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan. terutaka-tym@umin.ac.jp.
authors.forename: Terumi
authors.initials: T
authors.lastname: Takahara
authors.affiliation: Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Iwasa
authors.affiliation: Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Kazuko
authors.initials: K
authors.lastname: Shinagawa
authors.affiliation: Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Entani
authors.affiliation: Toyama Red Cross Hospital, Ushijima Honmachi, Toyama, 2-1-58, Japan.
authors.forename: Syuji
authors.initials: S
authors.lastname: Inatsuchi
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Ando
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Haruka
authors.initials: H
authors.lastname: Fujinami
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Kazuto
authors.initials: K
authors.lastname: Tajiri
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Yoshiharu
authors.initials: Y
authors.lastname: Tokimitsu
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Kohei
authors.initials: K
authors.lastname: Ogawa
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Miyazono
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Takako
authors.initials: T
authors.lastname: Miyazaki
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Murakami
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Ayumu
authors.initials: A
authors.lastname: Hosokawa
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yasumura
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Minemura
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Takahiko
authors.initials: T
authors.lastname: Kudo
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Sugitani, Toyama, 2630, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
keywords: CTLN2; Citrin; Citrullinemia; Hepatic encephalopathy; Hyperammonemia; SLC25A13