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Hyperammonemia, or high ammonia levels, is a metabolic disturbance characterised by an excess of ammonia in the blood. Severe hyperammonemia is a dangerous condition that may lead to brain injury and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein.
The diagnosis of hepatic encephalopathy is a clinical one, once other causes for confusion or coma have been excluded; no test fully diagnoses or excludes it. Serum ammonia levels are elevated in 90% of people, but not all hyperammonaemia (high ammonia levels in the blood) is associated with encephalopathy.
Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) [1] is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high.
Adults with high blood ammonia levels: disorientation, confusion, slurred speech, unusual and extreme combativeness or agitation, stroke-like symptoms, lethargy and delirium. Many may be seen by neurologists or psychiatrists because of psychiatric symptoms, including schizophrenia and bipolar disorder.
The syndrome is associated with changes on blood tests such as a high blood ammonia level, low blood sugar level, and prolonged prothrombin time. [2] Often, the liver is enlarged in those who have the syndrome. [2] Prevention is typically by avoiding the use of aspirin in children. [1]
Severe Transient Hyperammonemia is diagnosed when ammonia levels are above 50 μM up to as much as 4000 μM. Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. [5]
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