Disease Information for N-Acetylglutamate synthetase deficiency

N-Acetyl Glutamate Synthetase Deficiency; Hyperammonemia Due to N-Acetylglutamate synthetase Deficiency; NAGS Deficiency; N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS); NAGS is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea cycle; The lack of the NAGS enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood; Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with NAGS deficiency; Symptoms include vomiting, refusal to eat, progressive lethargy, and coma; NAGS deficiency is inherited as an autosomal recessive trait; The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine; Nitrogen is a waste product of protein metabolism; Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood

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