Urea Cycle - Pathology

Pathology

Anomalies of the urea cycle cause urea cycle disorders:

  • ornithine transcarbamoylase deficiency
  • Carbamoyl phosphate synthetase deficiency
  • Argininosuccinic aciduria
  • Argininemia
  • Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome (HHH syndrome, ornithine translocase deficiency)
  • Lysinuric protein intolerance
  • Citrullinemia
  • N-Acetylglutamate synthase deficiency

Most of them are associated with hyperammonemia.

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