Liver Transplantation in an Adult with Citrullinaemia Type 2
نویسندگان
چکیده
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset. We report the outcome of a patient with citrullinemia Type 2 who received a liver transplant at our center and the implications of this diagnosis in liver transplantation.
منابع مشابه
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.
OBJECTIVE Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. Most of the patients with this disease were reported in Japan and therefore, this disease has not been well recognised outside this country. The detailed clinical pictures of the patients with type II citrullinaemia are rep...
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ورودعنوان ژورنال:
دوره 2011 شماره
صفحات -
تاریخ انتشار 2011