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Alternative pathway therapy for urea cycle disorders

  • Published:
Journal of Inherited Metabolic Disease

Abstract

In man the major pathway for the disposal of waste nitrogen is the urea cycle; in inborn errors of this pathway, nitrogen flux is reduced. As a result there is accumulation of ammonia and glutamine with disordered metabolism of other amino acids. Nitrogen homeostasis can be restored in these patients with a low-protein diet combined with compounds that create alternative pathways for nitrogen excretion. The introduction of these compounds has been a major advance in the management of these inborn errors and as a result the outcome, particularly for those treated early, has improved.

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Authors
  1. F. Feillet
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  2. J. V. Leonard
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Feillet, F., Leonard, J.V. Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis 21 (Suppl 1), 101–111 (1998). https://doi.org/10.1023/A:1005365825875

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