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Genetic and Rare Diseases Information Center (GARD)

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N-acetylglutamate synthetase deficiency


Other Names for this Disease

  • Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
  • N-acetyl glutamate synthetase deficiency
  • NAG synthetase deficiency
  • NAGS deficiency
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Overview

N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion.
Last updated: 12/17/2009

References

  1. N-acetylglutamate synthase deficiency. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=nacetylglutamatesynthasedeficiency. Accessed 12/17/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on N-acetylglutamate synthetase deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss N-acetylglutamate synthetase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
  • N-acetyl glutamate synthetase deficiency
  • NAG synthetase deficiency
  • NAGS deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.