Severe hyperammonaemia in adults not explained by liver disease

Ann Clin Biochem. 2012 May;49(Pt 3):214-28. doi: 10.1258/acb.2011.011206. Epub 2012 Feb 20.

Abstract

Ammonia is produced continuously in the body. It crosses the blood-brain barrier readily and at increased concentration it is toxic to the brain. A highly integrated system protects against this: ammonia produced during metabolism is detoxified temporarily by incorporation into the non-toxic amino acid glutamine. This is transported safely in the circulation to the small intestine, where ammonia is released, carried directly to the liver in the portal blood, converted to non-toxic urea and finally excreted in urine. As a result, plasma concentrations of ammonia in the systemic circulation are normally very low (<40 μmol/L). Hyperammonaemia develops if the urea cycle cannot control the ammonia load. This occurs when the load is excessive, portal blood from the intestines bypasses the liver and/or the urea cycle functions poorly. By far, the commonest cause is liver damage. This review focuses on other causes in adults. Because they are much less common, the diagnosis may be missed or delayed, with disastrous consequences. There is effective treatment for most of them, but it must be instituted promptly to avoid fatality or long-term neurological damage. Of particular concern are unsuspected inherited defects of the urea cycle and fatty acid oxidation presenting with catastrophic illness in previously normal individuals. Early identification of the problem is the challenge.

Publication types

  • Review

MeSH terms

  • Adult
  • Amino Acids / blood
  • Ammonia / blood*
  • Biological Transport
  • Blood-Brain Barrier / metabolism
  • Brain / metabolism*
  • Glutamine / blood*
  • Humans
  • Hyperammonemia / blood*
  • Hyperammonemia / complications
  • Hyperammonemia / diagnosis
  • Liver / metabolism
  • Liver Diseases / blood
  • Liver Diseases / diagnosis
  • Nitrogen / blood
  • Urea / blood
  • Urea Cycle Disorders, Inborn / blood*
  • Urea Cycle Disorders, Inborn / complications
  • Urea Cycle Disorders, Inborn / diagnosis

Substances

  • Amino Acids
  • Glutamine
  • Ammonia
  • Urea
  • Nitrogen