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 leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), 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.

Last Updated: 11 Jun 2015

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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 leads the search for a cure. Internationally recognized, NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF is the driving force stimulating and supporting research for new treatments, improved outcomes, and a Cure. NUCDF efforts include educating UCD patients, families and medical professionals on diagnosis, treatment and management, and providing guidance, resources, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), 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.

http://www.nucdf.org

Last Updated: 11 Jun 2015

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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 64 free, full-text research articles on human participants. First 3 results:

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.
 

Author(s): Ileana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, Guy Helman, Andrea L Gropman, John W VanMeter

Journal:

 

Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This study aims to investigate differences ...

Last Updated: 13 Jun 2015

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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
 

Author(s): Anais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou, Manoelle Kossorotoff, Aude Servais, Valerie Barbier, Sandrine Dubois, Guy Touati, Robert Barouki, Fabrice Lesage, Laurent Dupic, Jean Paul Bonnefont, Chris Ottolenghi, Pascale De Lonlay

Journal:

 

The principal aim of this study was to investigate the long-term outcomes of a large cohort of patients with ornithine transcarbamylase deficiency (OTCD) who were followed up at a single medical center.

Last Updated: 26 May 2015

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A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
 

Author(s): Tatyana N Tarasenko, Odrick R Rosas, Larry N Singh, Kara Kristaponis, Hilary Vernon, Peter J McGuire

Journal:

 

Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria. In this report, we describe a new animal model of OTCD caused by a spontaneous mutation in the mouse Otc gene (c.240T>A, ...

Last Updated: 4 Feb 2015

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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 2 free, full-text review articles on human participants. First 3 results:

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
 

Author(s): Ljubica Caldovic, Iman Abdikarim, Sahas Narain, Mendel Tuchman, Hiroki Morizono

Journal: J Genet Genomics. 2015 May;42(5):181-94.

 

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed ...

Last Updated: 10 Jun 2015

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The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
 

Author(s): A A Busuttil, J A Goss, P Seu, T S Dulkanchainun, G S Yanni, S V McDiarmid, R W Busuttil

Journal: Liver Transpl Surg. 1998 Sep;4(5):350-4.

 

The purpose of this study was to combine our clinical experience with a review of the literature to determine the value of orthotopic liver transplantation in the treatment of both boys and girls with ornithine transcarbamylase deficiency. Three boys younger than 1 year of age with ...

Last Updated: 5 Oct 1998

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 26 Jan 2016

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Urease Inhibitor Drug Treatment for Urea Cycle Disorders
 

Status: Not yet recruiting

Condition Summary: Ornithine Transcarbamylase Deficiency; Argininosuccinate Synthetase Deficiency (Citrullinemia); Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria); Carbamyl-Phosphate Synthase I Deficiency

 

Last Updated: 28 Jan 2016

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Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
 

Status: Recruiting

Condition Summary: Amino Acid Metabolism, Inborn Errors

 

Last Updated: 23 Jun 2005

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