What is Hyperammonaemia?

Hyperammonaemia is an accumulation of ammonia in the blood. It is a serious health condition that can lead to neurological problems if left untreated. Ammonia is a waste product normally broken down and excreted by the liver. When the liver is not functioning properly, ammonia can accumulate in the blood.

Hyperammonaemia can be caused by liver disease, medication, drugs, certain dietary practices or inherited metabolic disorders. The severity of the condition may vary, from mild to life-threatening. It is important to diagnose and treat hyperammonaemia as soon as possible to reduce potential long-term consequences.

Signs and Symptoms of Hyperammonaemia

The signs and symptoms of hyperammonaemia may include:

  • Drowsiness, confusion or agitation
  • Weakness
  • Lethargy
  • Tremors
  • Poor concentration
  • Loss of appetite
  • Nausea and vomiting
  • Coma

Diagnosis and Treatment of Hyperammonaemia

Hyperammonaemia can be diagnosed with a blood test to measure the levels of ammonia in the blood. Treatment of the underlying cause is the main treatment for hyperammonaemia. It is important to identify the cause of the problem and treat it. Treatment may also involve medications to reduce the production of ammonia in the body and supplements to restore nutrients.

In some cases, a transplant may be necessary, especially if the liver is not functioning properly. In some cases, dialysis may be used to filter out metabolites in the blood, including ammonia.

Complications of Hyperammonaemia

Untreated hyperammonaemia can lead to serious complications, including:

  • Brain damage
  • Coma
  • Liver failure
  • Death

It is important for people with hyperammonaemia to be monitored closely and to receive timely treatments to reduce the risk of complications.