Diseases & Conditions


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Ornithine Transcarbamylase Deficiency


Synonyms of Ornithine Transcarbamylase Deficiency
  • Hyperammonemia due to Ornithine Transcarbamylase Deficiency
  • Hyperammonemia Type II
  • Ornithine Carbamyl Transferase Deficiency
  • OTC Deficiency

Disorder Subdivisions



    General Discussion
    Ornithine transcarbamylase (OTC) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma. OTC deficiency is inherited as an X-linked 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.

    Organizations related to Ornithine Transcarbamylase Deficiency
    • Belgian Association for Metabolic Diseases (BOKS)
      Alice Nahonlann 7
      Melsele None 9120
      Phone #: 323-775-4839
      800 #: N/A
      e-mail: info@boks.be
      Home page: http://www.boks.be
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • National Kidney Foundation
      30 East 33rd Street
      New York NY 10016
      Phone #: 212-889-2210
      800 #: 800-622-9010
      e-mail: info@kidney.org
      Home page: http://www.kidney.org
    • National Urea Cycle Disorders Foundation
      4841 Hill Street
      La Canada CA 91011
      Phone #: 818-790-2460
      800 #: 800-386-8233
      e-mail: info@nucdf.org
      Home page: http://www.nucdf.org
    • Organic Acidaemias UK
      5 Saxon Road
      Middlesex Intl TW15 1QL
      Phone #: 44--178-4-245989
      800 #: --
      e-mail: davidpriddy@bigfoot.com
      Home page: N/A



    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