Type 2 Citrullinemia in an Elderly Patient Treated with Living Related Partial Liver Transplantation

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  • Type II Citrullinemia in an Elderly Patient Treated with Living Related Partial Liver Transplantation.

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A 60-year-old woman was admitted to our hospital for repeated consciousness disturbance. Blood examination showed hyperammonemia, and plasma amino acid analysis revealed a marked increase in the citrulline level. To establish a diagnosis, a percutaneous needle biopsy of the liver was performed. The determination of the urea cycle enzyme activities revealed a selective marked decrease in argininosuccinate synthetase activity, indicating the final diagnosis of type II citrullinemia. The mean survival period of this disease after the appearance of symptoms has been reported as 26.4 months, and most conservative treatments are not effective. We performed a living related partial liver transplantation. Over the subsequent 13-month follow-up, the patient's condition has remained fairly good.<br>(Internal Medicine 39: 553-558, 2000)

収録刊行物

  • Internal Medicine

    Internal Medicine 39 (7), 553-558, 2000

    一般社団法人 日本内科学会

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