Abstract
Hyperammonemia, characterized by excess ammonia in the blood, can be a life-threatening condition. Clinical symptoms are nonspecific, and include poor feeding, lethargy, irritability, tachypnea, seizures, obtundation, and respiratory insufficiency. Hyperammonemia is due to defect in detoxification or overproduction of ammonia. Defects in the urea cycle lead to the most severe hyperammonemia. Other causes of hyperammonemia include various metabolic defects such as certain organic acidurias, fatty acid oxidation defects, drugs and liver disease. The most important diagnostic test for the diagnosis of hyperammonemia is measuring plasma ammonia. Various biomarkers are used for the differential diagnosis of hyperammonia. They include plasma and urine amino acid profiles, urine organic acid profiles, and plasma acylcarnitine profiles. Management of acute hyperammonia includes discontinuation of protein intake, and treatment with nitrogen scavengers and glucose. Arginine is administrated in all urea cycle defects except arginase deficiency. Disease follow-up biomarkers include plasma ammonia levels, specific amino acids, and urine orotic acid. Since patients are on a low protein diet, markers of nutritional deficiency are also monitored.
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