Fukushima Kazuhiro, Yazaki Masahide, Nakamura Mio, Tanaka Naoki, Kobayashi Keiko, Saheki Takeyori, Takei Hideki, Ikeda Shu-ichi
The Third Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto.
Intern Med. 2010;49(3):243-7. doi: 10.2169/internalmedicine.49.2712. Epub 2010 Feb 1.
Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) presenting with hepatic encephalopathy. Recent studies have suggested that excessive loading of carbohydrates is harmful in citrin-deficient individuals. Here we report a CTLN2 patient who showed further deterioration of encephalopathy after the employment of conventional low-protein diet therapy for chronic liver failure. Owing to the high carbohydrate content, the conventional low-protein diet therapy should be avoided in patients with hepatic encephalopathy associated with citrin deficiency. In addition, our observation may suggest that carbohydrate-restricted diet in which the content of carbohydrate is below 50% of daily energy intake can have therapeutic efficacy in CTLN2 patients.
由SLC25A13基因突变引起的瓜氨酸血症会发展为成人发作型II型瓜氨酸血症（CTLN2），并伴有肝性脑病。最近的研究表明，碳水化合物摄入过多对瓜氨酸缺乏的个体有害。在此，我们报告一名CTLN2患者，在采用传统的低蛋白饮食疗法治疗慢性肝功能衰竭后，脑病进一步恶化。由于碳水化合物含量高，对于伴有瓜氨酸缺乏的肝性脑病患者，应避免使用传统的低蛋白饮食疗法。此外，我们的观察结果可能表明，碳水化合物含量低于每日能量摄入量50%的碳水化合物限制饮食对CTLN2患者可能具有治疗效果。
