Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment
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- Suzuki Takanori
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Matsuura Kentaro
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Imura Naoto
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Kawamura Hayato
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Kuno Kayoko
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Fujiwara Kei
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Nojiri Shunsuke
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
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- Ito Shogo
- Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan
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- Togawa Takao
- Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan
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- Kataoka Hiromi
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Japan
抄録
<p>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. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 63 (6), 833-837, 2024-03-15
一般社団法人 日本内科学会