Ornithine transcarbamylase deficiency

Common Name(s)

Ornithine transcarbamylase deficiency, Ornithine carbamoyltransferase deficiency

Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Mutations in the OTC gene cause OTC deficiency. OTC deficiency is an X-linked disorder.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ornithine transcarbamylase deficiency" for support, advocacy or research.

National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research and development of new treatments.

http://www.nucdf.org

Last Updated: 18 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ornithine transcarbamylase deficiency" for support, advocacy or research.

National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research and development of new treatments.

http://www.nucdf.org

Last Updated: 18 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ornithine transcarbamylase deficiency" returned 47 free, full-text research articles on human participants. First 3 results:

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.
 

Author(s): Nir Samuel, Anat K Politansky, Ron Hoffman, Shlomit Itzkovich, Hanna Mandel

Journal: Isr. Med. Assoc. J.. 2013 Dec;15(12):777-9.

 

Last Updated: 23 Jan 2014

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Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.
 

Author(s): Kenji Ihara, Makoto Yoshino, Takayuki Hoshina, Nawomi Harada, Kanako Kojima-Ishii, Mika Makimura, Yuki Hasegawa, Yoriko Watanabe, Seiji Yamaguchi, Toshiro Hara

Journal: Pediatrics. 2013 Jan;131(1):e327-30.

 

The late-onset type of ornithine transcarbamylase (OTC) deficiency is almost asymptomatic before an abrupt onset of metabolic crisis in adolescence. This study focused on coagulopathy in OTC deficiency. We collected laboratory data regarding coagulation from OTC-deficient patients ...

Last Updated: 2 Jan 2013

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Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.
 

Author(s): Lili Wang, Hiroki Morizono, Jianping Lin, Peter Bell, David Jones, Deirdre McMenamin, Hongwei Yu, Mark L Batshaw, James M Wilson

Journal: Mol. Genet. Metab.. 2012 Feb;105(2):203-11.

 

Ornithine transcarbamylase deficiency (OTCD), the most common and severe urea cycle disorder, is an excellent model for developing liver-directed gene therapy. No curative therapy exists except for liver transplantation which is limited by available donors and carries significant ...

Last Updated: 23 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ornithine transcarbamylase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
 

Status: Recruiting

Condition Summary: Ornithine Transcarbamylase Deficiency

 

Last Updated: 27 Jan 2014

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Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders; Carbamoylphosphate Synthetase I Deficiency; Ornithine Transcarbamylase Deficiency; Citrullinemia

 

Last Updated: 20 Mar 2014

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Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA); Late-onset CPS1 Deficiency (CPSD); Late-onset Ornithine Transcarbamylase Deficiency (OTCD)

 

Last Updated: 19 Jul 2013

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