A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.

@article{Oshiro2002APW,
  title={A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.},
  author={Saori Oshiro and Tutomu Kochinda and Takeshi Tana and Masanobu Yamazato and Keiko Kobayashi and Yukihiro Komine and Hiromi Muratani and Takeyori Saheki and Kunitoshi Iseki and Shuichi Takishita},
  journal={American journal of kidney diseases : the official journal of the National Kidney Foundation},
  year={2002},
  volume={39 1},
  pages={189-92}
}
A 40-year-old woman was referred for several episodes of coma lasting from 2 hours to 2 days. She had been on maintenance hemodialysis for polycystic kidney disease for 9 months. Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made. Multiple areas of focal brain edema were shown by magnetic resonance imaging. The clinical manifestations of coma and abnormal behavior were resolved with intensified dialysis (ie, four… CONTINUE READING

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