Carbamyl Phosphate Synthetase Deficiency

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • CPS Deficiency
  • Hyperammonemia due to carbamylphosphate Synthetase Deficiency

Disorder Subdivisions

  • None

General Discussion

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.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105-1602
Tel: (626)578-0833
Tel: (800)386-8233
Email: info@nucdf.org
Internet: http://www.nucdf.org

American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
USA
Tel: (301)881-3052
Fax: (301)881-0898
Tel: (800)638-8299
Email: helpline@kideyfund.org
Internet: http://www.kidneyfund.org

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Internet: http://www.kidney.org

Brusilow, Saul, M.D.
Children's Medical and Surgical Center
Division of Metabolic Diseases
Baltimore, MD 21205
Tel: (410)955-0885

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Urea Cycle Disorders Consortium
Children’s Research Institute
Children’s National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
Email: jseminar@cnmc.org
Internet: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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