Alternative pathway therapy for urea cycle disorders

J Inherit Metab Dis. 1998;21 Suppl 1:101-11. doi: 10.1023/a:1005365825875.

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Animals
  • Arginine / metabolism
  • Arginine / therapeutic use
  • Benzoates / adverse effects
  • Benzoates / therapeutic use
  • Benzoic Acid
  • Child
  • Citrulline / metabolism
  • Citrulline / therapeutic use
  • Combined Modality Therapy
  • Female
  • Humans
  • Male
  • Nitrogen / metabolism
  • Phenylacetates / therapeutic use
  • Phenylbutyrates / adverse effects
  • Phenylbutyrates / therapeutic use
  • Urea / metabolism*

Substances

  • Benzoates
  • Phenylacetates
  • Phenylbutyrates
  • Citrulline
  • Benzoic Acid
  • Urea
  • Arginine
  • phenylacetic acid
  • Nitrogen