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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor.

BACKGROUND: Type II citrullinemia (CTLN2) characterized by a liver-specific argininosuccinate synthetase deficiency is an adult onset genetical disorder caused by the mutation of SLC25A13 gene, which results in fulminant hyperammonemia often with poor prognosis. METHODS: A 16-year-old Japanese boy presented fulminant hyperammonemia and encephalopathy and recovered after aggressive medical treatment. The patient was diagnosed as CTLN2 by plasma amino acid pattern and detection of the mutated SLC25A13 gene. We performed living-related liver transplantation (LRLT) using a graft from the genetically proven heterozygote father. RESULTS: Serum amino acid concentration was normalized within a day after transplantation without protein restriction and medication. The patient's postoperative course was natural. The patient is back in school 6 months after surgery. CONCLUSIONS: Living-related liver transplantation using a graft from genetically proven heterozygote donors might be a permissible treatment modality for CTLN2. Long-term observation may be necessary to make a definite conclusion possible.[1]

References

  1. Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor. Kasahara, M., Ohwada, S., Takeichi, T., Kaneko, H., Tomomasa, T., Morikawa, A., Yonemura, K., Asonuma, K., Tanaka, K., Kobayashi, K., Saheki, T., Takeyoshi, I., Morishita, Y. Transplantation (2001) [Pubmed]
 
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