Carbamyl Phosphate Synthetase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Carbamyl Phosphate 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.
Carbamyl phosphate synthetase (CPS) deficiency is a rare inherited disorder caused by lack or deficiency of the enzyme carbamyl phosphate synthetase, one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. CPS 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, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105-1602
American Kidney Fund, Inc.
6110 Executive Boulevard
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Brusilow, Saul, M.D.
Children's Medical and Surgical Center
Division of Metabolic Diseases
Baltimore, MD 21205
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Urea Cycle Disorders Consortium
Children’s Research Institute
Children’s National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
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