Current concepts in the pathogenesis of urea cycle disorders.

  title={Current concepts in the pathogenesis of urea cycle disorders.},
  author={Olivier Braissant},
  journal={Molecular genetics and metabolism},
  volume={100 Suppl 1},
The common feature of urea cycle diseases (UCD) is a defect in ammonium elimination in liver, leading to hyperammonemia. This excess of circulating ammonium eventually reaches the central nervous system, where the main toxic effects of ammonium occur. These are reversible or irreversible, depending on the age of onset as well as the duration and the level of ammonium exposure. The brain is much more susceptible to the deleterious effects of ammonium during development than in adulthood, and… CONTINUE READING


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