N-Acetylglutamate Synthetase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report N-Acetylglutamate Synthetase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105-1602
American Kidney Fund, Inc.
11921 Rockville Pike
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Urea Cycle Disorders Consortium
Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 3/17/2011
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