نتایج جستجو برای: citrullinemia
تعداد نتایج: 234 فیلتر نتایج به سال:
bilateral temporo-occipital hyperintensity on MRI (Fig. 1A, B). Thereafter, she acutely developed consciousness disturbance, showing elevation of plasma levels of ammonia, citrulline and arginine, and extensive brain edema (Fig. 1C, D). The liver biopsy revealed a selective decrease of argininosuccinate synthetase, leading to the diagnosis of adult-onset type II citrullinemia (CTLN2). Two month...
OBJECTIVE We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment of brain edema in patients with adult-onset type II citrullinemia (CTLN2) caused by citrin deficiency. PATIENTS AND METHODS We performed a retrospective investigation of 3 patients with CTLN2 treated for brain edema at our institute: a 31-year-old male patient and a...
A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liv...
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