Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
Journal
Journal of the Formosan Medical Association
Journal Volume
105
Journal Issue
10
Pages
852-856
Date Issued
2006
Author(s)
Abstract
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until the age of 34 when he had repeated episodes of consciousness disturbance. Hyperammonia (201 μmol/L) was found during an episode of coma. Liver function and electrolyte levels were normal at that time. Serologic markers of viral hepatitis B and C were negative. Analysis of genomic DNA extracted from peripheral blood leukocytes showed homozygous 851de14 mutation in exon 9 of the SLC25A13 gene on chromosome 7q21.3. Fourteen years after disease onset, at the age of 48, he was admitted due to an episode of coma. Abdominal sonography and computed tomography showed a 2.5 cm tumor in the left lobe of the liver, without evidence of liver cirrhosis. Wedge resection of the tumor was performed and grade 2 HCC was diagnosed. The nontumor part of the resected. specimen showed chronic persistent hepatitis with moderate steatosis. The results in this case support that both citrin deficiency and steatohepatitis may contribute to hepatocarcinogenesis. ?2006 Elsevier & Formosan Medical Association.
SDGs
Other Subjects
gene product; genomic DNA; protein slc25a13; unclassified drug; abdominal radiography; adult; article; aspiration biopsy; cancer grading; case report; chromosome 7q; citrullinemia; clinical feature; coma; computer assisted tomography; DNA extraction; echography; electrolyte balance; exon; gene location; gene mutation; hemodialysis; hepatitis; homozygosity; human; human tissue; hyperammonemia; liver cell carcinoma; liver function; male; onset age; pathophysiology; postoperative period; steatosis; surgical technique; treatment response
Publisher
Scientific Communications International Ltd
Type
journal article