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• W2036762482 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." @default.
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• W2036762482 date "2012-01-01" @default.
• W2036762482 modified "2023-10-16" @default.
• W2036762482 title "An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the <i>SLC25A13</i> Gene" @default.
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• W2036762482 doi "https://doi.org/10.2169/internalmedicine.51.7644" @default.
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