Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

@article{Balmer2014MutationsAP,
  title={Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.},
  author={C{\'e}cile Balmer and Amit V Pandey and V{\'e}ronique R{\"u}fenacht and J. -M. Nuoffer and Ping Fang and L. J. C. Wong and Johannes H{\"a}berle},
  journal={Human mutation},
  year={2014},
  volume={35 1},
  pages={27-35}
}
Argininosuccinate lyase deficiency (ASLD) is caused by a defect of the urea cycle enzyme argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period mainly triggered by excessive protein catabolism. Clinical courses comprise asymptomatic individuals who only excrete the biochemical marker, argininosuccinic acid, in urine, and patients who succumb to their first hyperammonemic decompensation… CONTINUE READING
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