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