Citrullinemia presenting as uncontrollable epilepsy.

  title={Citrullinemia presenting as uncontrollable epilepsy.},
  author={Yoshihiro Origuchi and Toshikazu Ushijima and Masato Sakaguchi and Izumi Akaboshi and Ichiro Matsuda},
  journal={Brain & development},
  volume={6 3},
We report the case of a 16-year-old girl with a variant form of citrullinemia who had been treated with anticonvulsants for uncontrolled epilepsy during the last 4 years. The diagnosis of citrullinemia was made because she had elevated values for serum citrulline (about 10 times control levels), elevated blood ammonia (over 400 micrograms/dl) and reduced… CONTINUE READING