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N-Acetylglutamate Synthetase Deficiency

Abstract

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NORD is very grateful to Stephen Cederbaum, MD, Division of Genetics, UCLA, for assistance in the preparation of this report.

Synonyms of N-Acetylglutamate Synthetase Deficiency

  • hyperammonemia due to N-acetylglutamate synthetase deficiency
  • NAGS deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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, in the blood (hyperammonemia). Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings of 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.

Organizations related to N-Acetylglutamate Synthetase Deficiency

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