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

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

doi:10.2169/internalmedicine.51.7644

CASE REPORTS

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

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

Author information

Yoshimi Takahashi
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Shingo Koyama
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Hidetomo Tanaka
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Shigeki Arawaka
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Manabu Wada
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Toru Kawanami
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
Hiroaki Haga
Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan
Hisayoshi Watanabe
Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan
Kentaro Toyota
Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan
Chikahiko Numakura
Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan
Kiyoshi Hayasaka
Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan
Takeo Kato
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan

Keywords: adult-onset type II citrullinemia, citrin, hemosiderin, hyperferritinemia, novel mutation, SLC25A-13

JOURNAL OPEN ACCESS

2012 Volume 51 Issue 16 Pages 2131-2134

DOI https://doi.org/10.2169/internalmedicine.51.7644

Details

Abstract

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.

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