A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.

@article{Tanaka2002ANS,
  title={A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.},
  author={Toju Tanaka and Masayoshi Nagao and Toshihiko Mori and Hiroyuki Tsutsumi},
  journal={The Tohoku journal of experimental medicine},
  year={2002},
  volume={198 2},
  pages={119-24}
}
Argininosuccinate lyase (ASL) deficiency (McKusick 207900) is a rare autosomal recessive disorder affecting the urea cycle. The cardinal symptom in the neonatal form is progressive hyperammonemia, which is often life-threatening. However, clinical symptoms in the late onset form are quite heterogeneous. As well as measurement of ASL activity, analysis of the ASL gene is necessary to clarify the genetic basis of various phenotypes. We report a patient with late onset argininosuccinate lyase… CONTINUE READING