Current concepts in the pathogenesis of urea cycle disorders.

@article{Braissant2010CurrentCI,
  title={Current concepts in the pathogenesis of urea cycle disorders.},
  author={Olivier Braissant},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={100 Suppl 1},
  pages={S3-S12}
}
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

Citations

Publications citing this paper.
Showing 1-10 of 51 extracted citations

Hyperammonemia in review: pathophysiology, diagnosis, and treatment

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View 8 Excerpts
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Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.

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View 6 Excerpts
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References

Publications referenced by this paper.
Showing 1-10 of 170 references

Urea cycle disorders.

Seminars in neonatology : SN • 2002
View 6 Excerpts
Highly Influenced

Creatine and creatinine metabolism.

Physiological reviews • 2000
View 8 Excerpts
Highly Influenced

Nitroarginine

E. Kosenko, Y. Kaminsky, +4 authors V. Felipo
an inhibitor of nitric oxide synthase, prevents changes in superoxide radical and antioxidant enzymes induced by ammonia intoxication, Metab. Brain Dis. 13 • 1998
View 4 Excerpts
Highly Influenced

Dissociation of AGAT

O. Braissant, E. Béard, C. Torrent, H. Henry
GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes, Neurobiol. Dis. 37 • 2010

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