An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene

作者：Takahashi Yoshimi; Koyama Shingo^*; Tanaka Hidetomo; Arawaka Shigeki; Wada Manabu; Kawanami Toru; Haga Hiroaki; Watanabe Hisayoshi; Toyota Kentaro; Numakura Chikahiko; Hayasaka Kiyoshi; Kato Takeo

来源：Internal Medicine, 2012, 51(16): 2131-2134.

DOI：10.2169/internalmedicine.51.7644

• adult-onset type II citrullinemia
• citrin
• hemosiderin
• hyperferritinemia
• novel mutation
• SLC25A13

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.

• 出版日期2012