Important It is possible that the main title of the report Arginase 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.
Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is 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 the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid. Untreated children may exhibit seizures, spasticity, short stature and intellectual disability. Arginase deficiency is inherited as an autosomal recessive genetic disorder.
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) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: firstname.lastname@example.org Internet: http://www.CLIMB.org.uk
National Urea Cycle Disorders Foundation 75 South Grand Avenue Pasadena, CA 91105-1602 Tel: (626)578-0833 Fax: (626)578-0823 Tel: (800)386-8233 Email: email@example.com Internet: http://www.nucdf.org
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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 Tel: (301)496-3583 Email: NDDIC@info.niddk.nih.gov Internet: http://www2.niddk.nih.gov/
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 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Urea Cycle Disorders Consortium Children's National Medical Center 111 Michigan Avenue, NW Washington, DC 20010 Tel: (815)333-4014 Email: firstname.lastname@example.org Internet: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm
Medical Home Portal Dept. of Pediatrics University of Utah P.O. Box 581289 Salt Lake City, UT 84158 Tel: (801)587-9978 Fax: (801)581-3899 Email: email@example.com Internet: http://www.medicalhomeportal.org
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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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