Hyperammonemia

Hyperammonemia is a metabolic disturbance characterized by an excess of ammonia in the blood. It is a dangerous condition that can lead to brain damage and/or death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a byproduct of the breakdown of protein. It can be caused by genetic disorders, liver disease, or certain medications.

Causes

Hyperammonemia can be caused by a variety of factors, including:

• Genetic disorders: Certain genetic conditions can affect the body's ability to convert ammonia to urea. These include urea cycle disorders and organic acidemias.
• Liver disease: Conditions such as cirrhosis or hepatitis can impair the liver's ability to remove toxins like ammonia from the body.
• Medications: Some medications, such as valproic acid and certain chemotherapy drugs, can increase ammonia levels.

Symptoms

Symptoms of hyperammonemia can vary depending on the severity of the condition. They may include:

• Fatigue
• Nausea and vomiting
• Confusion or disorientation
• Seizures
• Coma

Diagnosis

Hyperammonemia is diagnosed through a blood test that measures the level of ammonia in the blood. Additional tests may be needed to determine the underlying cause of the condition.

Treatment

Treatment for hyperammonemia typically involves addressing the underlying cause of the condition. This may include:

• Medication: Drugs that reduce the amount of ammonia in the body, such as lactulose and rifaximin, may be used.
• Dietary changes: A diet low in protein may be recommended to reduce the amount of ammonia produced by the body.
• Dialysis: In severe cases, dialysis may be needed to remove excess ammonia from the blood.

See also

• Urea cycle
• Hepatic encephalopathy
• Inborn errors of metabolism

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