Internal medicine (Tokyo, Japan) · 2023
Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Suzuki Takanori, Matsuura Kentaro, Imura Naoto, Kawamura Hayato, Kuno Kayoko, Fujiwara Kei, Nojiri Shunsuke, Ito Shogo, Togawa Takao, Kataoka Hiromi
Аннотация
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.