Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment

Takanori Suzuki; Kentaro Matsuura; Naoto Imura; Hayato Kawamura; Kayoko Kuno; Kei Fujiwara; Shunsuke Nojiri; Shogo Ito; Takao Togawa; Hiromi Kataoka

doi:10.2169/internalmedicine.1954-23

CASE REPORTS

Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment

Takanori Suzuki, Kentaro Matsuura, Naoto Imura, Hayato Kawamura, Kayoko Kuno, Kei Fujiwara, Shunsuke Nojiri, Shogo Ito, Takao Togawa, Hiromi Kataoka

Author information

Takanori Suzuki
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Kentaro Matsuura
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Naoto Imura
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Hayato Kawamura
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Kayoko Kuno
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Kei Fujiwara
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Shunsuke Nojiri
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
Shogo Ito
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan
Takao Togawa
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan
Hiromi Kataoka
Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan

Keywords: adult-onset type II citrullinemia, hepatic hypovascular tumor, peculiar eating habits

JOURNAL OPEN ACCESS

2024 Volume 63 Issue 6 Pages 833-837

DOI https://doi.org/10.2169/internalmedicine.1954-23

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Abstract

A 29-year-old man presented with liver damage, and a liver biopsy was performed, but the cause was unclear. Thereafter, he was referred to our hospital. We found that he had been unable to consume carbohydrates in his diet and preferred fried chicken since childhood. In addition, he had shown disturbance of consciousness and abnormal behavior while he had been in prison, where dietary intake had been restricted. A plasma amino acid analysis revealed hypercitrullinemia. Therefore, we suspected adult-onset type II citrullinemia (CTLN2). Genetic testing showed pathologic variations in the SLC25A13 gene, which allowed us to make a definite diagnosis of CTLN2.

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