It is possible that the primary title of the record N-Acetylglutamate Synthetase Deficiency is not the name you anticipated. Please examine the words noting to discover the alternate name(s) as well as disorder neighborhood(s) covered by this record.
- hyperammonemia as a result of N-acetylglutamate synthetase shortage
- NAGS shortage
N-acetylglutamate synthetase (NAGS) deficiency is an uncommon congenital disease defined by full or partial lack of the enzyme N-acetylglutamate synthetase (NAGS). NAGS is just one of six enzymes that contribute in the break down and also elimination of nitrogen from the body, a process known as the urea pattern. The lack of the NAGS enzyme causes too much buildup of nitrogen, in the form of ammonia, in the blood (hyperammonemia). Excess ammonia, which is a neurotoxin, travels to the main peripheral nervous system with the blood, resulting in the signs and symptoms and physical findings of NAGS shortage. Signs and symptoms consist of vomiting, rejection to consume, modern lethargy, and also coma. NAGS shortage is inherited as an autosomal recessive characteristic.
The urea pattern disorders are a team of uncommon disorders impacting the urea cycle, a series of biochemical processes in which nitrogen is converted right into urea and also eliminated from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to crack down nitrogen lead to the irregular accumulation of nitrogen, in the form of ammonia, in the blood.