Hyperammonaemia means elevated levels of ammonia in the blood. This is when symptoms such as confusion, confusion and sleepiness appear, or vice versa - agitation and even aggression, which may be mistaken for some mental illness. This can delay a proper diagnosis and, if not given timely treatment, the patient may die. What are the causes and other symptoms of hyperammonaemia? What is its treatment?

Hyperammonaemiathiselevatedabove the normblood ammonia level . Ammonia is a substance produced by the bacteria in your gut to digest proteins in the gut. It is normally transported from the intestines to the liver, where it is transformed into urea and glutamine (the so-called urea cycle), and then it is removed from the body through the kidneys, and then along with the urine. Normally, a man's blood should contain 27-102 μg / dl (16-60 μmol / l) of ammonia, and a woman's blood should contain 19-87 μg / dl (11-51 μmol / l) of ammonia. If blood levels are elevated above the normal range, it means that it is not properly metabolized and removed from the body.

Hyperammonaemia (increased ammonia levels) - causes

There are primary and secondary hyperammonaemia. The first is due to a genetic mutation that leads to a deficiency of the enzymes involved in the conversion of ammonia to urea in the liver. Then the process of metabolism and removal of ammonia from the body does not run properly.

However, the cause of secondary hyperammonaemia is most often liver failure (eg cirrhosis, portal hypertension), because it is this organ that is involved in the conversion of ammonia into urea. In addition, elevated blood ammonia levels may suggest acute or chronic kidney disease. Other possible causes of secondary hyperammonaemia include:

  • gastrointestinal bleeding
  • smoking
  • drinking alcohol
  • muscle fatigue (e.g. from respiratory failure or seizures) as the muscles produce ammonia during exercise

In addition, hyperammonaemia can occur in the course of Reye's syndrome. It can also be caused by taking certain medications, such as valproic acid (used to treat epilepsy and bipolar disorder).

Hyperammonaemia (elevated ammonia levels) - symptoms

When ammonia is not properly metabolized and removed from the body, it accumulates in the blood and brain (ammonia has the ability to penetrate the blood-brain barrier), which leads to damage and the formation of encephalopathy (organic changes in the brain, caused by its damage). Then symptoms such as:

People with hyperammonaemia can be confused and sleepy, or agitated or even aggressive

  • headaches
  • cognitive impairment
  • confusion
  • entanglement
  • muscle tremors
  • rapid or deep breathing
  • excessive sleepiness, which may then enter a coma

At worst, encephalopathy can lead to death.

Hyperammonaemia (increased ammonia levels) - diagnosis

If hyperammonaemia is suspected, blood tests are performed to check the levels of ammonia and glutamine in the blood.

Hyperammonaemia (elevated ammonia levels) - treatment

The patient is given drugs that lower the level of ammonia in the blood and intravenous glucose and lipids. In addition, you should ensure adequate hydration of the patient's body so that the kidneys are in good condition.

In some cases it may be necessary to perform the so-called hemodialysis, i.e. cleaning the blood of toxins and other harmful substances (in this case, ammonia).

Category:

Genetic diseases