Document Detail


Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.
MedLine Citation:
PMID:  17000460     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 micromol/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 851del4 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.
Authors:
Ching-Wei Tsai; Chih-Chao Yang; Huey-Ling Chen; Wuh-Liang Hwu; Mu-Zon Wu; Kao-Lang Liu; Ming-Shiang Wu
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Formosan Medical Association = Taiwan yi zhi     Volume:  105     ISSN:  0929-6646     ISO Abbreviation:  J. Formos. Med. Assoc.     Publication Date:  2006 Oct 
Date Detail:
Created Date:  2006-09-26     Completed Date:  2006-11-14     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9214933     Medline TA:  J Formos Med Assoc     Country:  China    
Other Details:
Languages:  eng     Pagination:  852-6     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, 7 Chung Shan South Road, Taipei 100, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Biopsy, Fine-Needle
Carcinoma, Hepatocellular / complications*,  diagnosis,  surgery
Citrullinemia / complications,  diagnosis,  genetics*
DNA / genetics*
Diagnosis, Differential
Electroencephalography
Fatty Liver / complications*,  diagnosis,  surgery
Follow-Up Studies
Hepatectomy
Homozygote
Humans
Liver Neoplasms / complications*,  diagnosis,  surgery
Male
Membrane Transport Proteins / genetics*
Middle Aged
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins / genetics*
Mutation*
Taiwan
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/Membrane Transport Proteins; 0/Mitochondrial Membrane Transport Proteins; 0/Mitochondrial Proteins; 0/SLC25A13 protein, human; 9007-49-2/DNA

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