Takahashi Yoshimi, Koyama Shingo, Tanaka Hidetomo, Arawaka Shigeki, Wada Manabu, Kawanami Toru, Haga Hiroaki, Watanabe Hisayoshi, Toyota Kentaro, Numakura Chikahiko, Hayasaka Kiyoshi, Kato Takeo
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan.
Intern Med. 2012;51(16):2131-4. doi: 10.2169/internalmedicine.51.7644. Epub 2012 Aug 15.
Mutations in the SLC25A13 gene lead to neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia (CTLN2). A 62-year-old man presented with recurrent episodes of neuropsychiatric manifestations. On admission, he had disorientation and flapping tremor. Laboratory data showed hyperferritinemia in addition to postprandial hyperammonemia and citrullinemia. A liver biopsy specimen revealed moderate hemosiderin deposits and hepatocytes with macrovesicular fat droplets. Genetic analysis of the SLC25A13 gene identified the previously reported p.S225X mutation and a novel p.D493G mutation. Hyperferritinemia might also be a characteristic finding of CTLN2-related fatty changes of the liver.
SLC25A13基因突变会导致由瓜氨酸缺乏引起的新生儿肝内胆汁淤积症和/或成人II型瓜氨酸血症（CTLN2）。一名62岁男性出现反复的神经精神症状发作。入院时，他有定向障碍和扑翼样震颤。实验室检查数据显示，除餐后高氨血症和瓜氨酸血症外，还有高铁蛋白血症。肝脏活检标本显示有中度含铁血黄素沉积以及含有大泡性脂肪滴的肝细胞。对SLC25A13基因的基因分析确定了先前报道的p.S225X突变和一个新的p.D493G突变。高铁蛋白血症也可能是CTLN2相关肝脏脂肪变化的一个特征性表现。
