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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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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.N-acetylglutamate synthase deficiency is type of
Last updated: 12/17/2009
- N-acetylglutamate synthase deficiency. Genetic Home Reference. 2006; http://ghr.nlm.nih.gov/condition=nacetylglutamatesynthasedeficiency. Accessed 12/17/2009.
- 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) database contains genetics resources that discuss N-acetylglutamate synthetase deficiency. Click on the link to go to OMIM and review these resources.
- 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.