Hyperammonemia

A new disease profile is added to our database – Hyperammonemia. Hyperammonemia is not a true disease; it is a sign that specific abnormalities that cause blood ammonia levels to become elevated may be present. Elevated blood ammonia levels cause a constellation of signs and symptoms that may appear to be a single disease which is often is often a result of genetic defect in the ammonia conversion system, and is always an indicator of a presence of a pathological process. Under normal circumstances, both the liver and the brain generate ammonia, substantially contributing to total body ammonia production. The urea cycle is completed in the liver, where urea is generated from free ammonia. The true mechanism of neurotoxicity in hyperammonemia is not yet fully determined. The common denominator, hyperammonemia, can be clinically manifested by some or all of the following: anorexia, irritability, heavy or rapid breathing, lethargy, vomiting, disorientation, somnolence, asterixis (rarely), combativeness, obtundation, coma, cerebral edema, and death, if treatment is not forthcoming or effective. Relapsing episodes of hyperammonenia results in progressive disturbance of the brain function. The combined incidence of urea cycle disorders has been estimated at approximately 1 per 20 000-25 000 live births. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in genetics – Dr. Radka Tincheva, MD, PhD.