An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene
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概要
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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.
著者
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Arawaka Shigeki
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University
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Takahashi Yoshimi
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University
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Hayasaka Kiyoshi
Department Of Pediatrics Yamagata University Faculty Of Medicine
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WATANABE Hisayoshi
Department of Gastroenterology, Faculty of Medicine, Yamagata University
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Wada Manabu
Department Of Neurology Hematology Metabolism Endocrinology And Diabetes Yamagata University School
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Numakura Chikahiko
Department Of Pediatrics Yamagata University School Of Medicine
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Haga Hiroaki
Department Of Gastroenterology Yamagata University Faculty Of Medicine
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Kawanami Toru
Department Of Neurology Hematology Metabolism Endocrinology And Diabetes Yamagata University School
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Toyota Kentaro
Department Of Pediatrics Yamagata University School Of Medicine
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Koyama Shingo
Department Of Neurology Hematology Metabolism Endocrinology And Diabetology Yamagata University Faculty Of Medicine
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KATO Takeo
Department of Applied Physics, Osaka City University
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Haga Hiroaki
Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan
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Watanabe Hisayoshi
Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan
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Tanaka Hidetomo
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
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Numakura Chikahiko
Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan
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Hayasaka Kiyoshi
Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan
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Wada Manabu
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
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