Alternative pathway therapy for urea cycle disorders.
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.
Biochemistry, Endocrine and Metabolic Unit, Institute of Child Health, London, UK.
F
F
Feillet
J V
JV
Leonard
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000188:drug therapy* / Q000378:metabolism; D000818:Animals; D001120:Arginine / Q000378:metabolism / Q000627:therapeutic use; D001565:Benzoates / Q000009:adverse effects / Q000627:therapeutic use; D019817:Benzoic Acid; D002648:Child; D002956:Citrulline / Q000378:metabolism / Q000627:therapeutic use; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D008297:Male; D009584:Nitrogen / Q000378:metabolism; D010648:Phenylacetates / Q000627:therapeutic use; D010654:Phenylbutyrates / Q000009:adverse effects / Q000627:therapeutic use; D014508:Urea / Q000378:metabolism*
D001565:Benzoates; D010648:Phenylacetates; D010654:Phenylbutyrates; D002956:Citrulline; D019817:Benzoic Acid; D014508:Urea; D001120:Arginine; C025136:phenylacetic acid; D009584:Nitrogen