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about NAGS

N-acetylglutamate Synthetase (NAGS) Deficiency

 

N-acetylglutamate synthetase (NAGS) deficiency is a urea cycle disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS). NAGS is one of six enzymes that help initiate the urea cycle, which removes excess nitrogen from the body. Nitrogen then builds up in the blood as a form of ammonia and leads to hyperammonemia which has many symptoms, including vomiting, loss of appetite, progressive lethargy, and coma. It affects females and males in similar numbers. All urea cycle disorders combined are thought to occur at a rate of 1 in every 40,000 births, although there are no specific numbers for NAGS deficiency.

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