Urea cycle disorders

Common Name(s)

Urea cycle disorders

A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Urea cycle disorders" for support, advocacy or research.

Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 29 May 2015

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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 "Urea cycle disorders" for support, advocacy or research.

Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 29 May 2015

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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 "Urea cycle disorders" returned 25 free, full-text research articles on human participants. First 3 results:

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
 

Author(s): Lindsay C Burrage, Mahim Jain, Laura Gandolfo, Brendan H Lee, , Sandesh C S Nagamani

Journal: Mol. Genet. Metab.. ;113(1-2):131-5.

 

Sodium phenylbutyrate (NaPBA) is a commonly used medication for the treatment of patients with urea cycle disorders (UCDs). Previous reports involving small numbers of patients with UCDs have shown that NaPBA treatment can result in lower plasma levels of the branched-chain amino ...

Last Updated: 27 Sep 2014

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Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.
 

Author(s): Susan A Berry, Uta Lichter-Konecki, George A Diaz, Shawn E McCandless, William Rhead, Wendy Smith, Cynthia Lemons, Sandesh C S Nagamani, Dion F Coakley, Masoud Mokhtarani, Bruce F Scharschmidt, Brendan Lee

Journal: Mol. Genet. Metab.. 2014 May;112(1):17-24.

 

To evaluate glycerol phenylbutyrate (GPB) in the treatment of pediatric patients with urea cycle disorders (UCDs).

Last Updated: 30 Apr 2014

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Case definition of encephalitis may misdiagnose congenital urea cycle disorders.
 

Author(s): Marine Tardieu, Zoha Maakaroun-Vermesse, François Labarthe

Journal: Clin. Infect. Dis.. 2014 May;58(10):1492-3.

 

Last Updated: 29 Apr 2014

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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 "Urea cycle disorders" returned 9 free, full-text review articles on human participants. First 3 results:

A longitudinal study of urea cycle disorders.
 

Author(s): Mark L Batshaw, Mendel Tuchman, Marshall Summar, Jennifer Seminara,

Journal: Mol. Genet. Metab.. ;113(1-2):127-30.

 

The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of 14 sites in the U.S., Canada ...

Last Updated: 27 Sep 2014

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Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.
 

Author(s): Ileana Pacheco-Colón, Stanley Fricke, John VanMeter, Andrea L Gropman

Journal: Mol. Genet. Metab.. ;113(1-2):118-26.

 

Our previous imaging research performed as part of a Urea Cycle Rare Disorders Consortium (UCRDC) grant, has identified specific biomarkers of neurologic injury in ornithine transcarbamylase deficiency, OTCD. While characterization of mutations can be achieved in most cases, this ...

Last Updated: 27 Sep 2014

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Suggested guidelines for the diagnosis and management of urea cycle disorders.
 

Author(s): Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-Vici

Journal:

 

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence ...

Last Updated: 5 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
 

Status: Recruiting

Condition Summary: Urea Cycle Disorder

 

Last Updated: 8 Jun 2015

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Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
 

Status: Recruiting

Condition Summary: Urea Cycle Disorders

 

Last Updated: 2 Jul 2015

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

Status: Recruiting

Condition Summary: Urea Cycle Disorders

 

Last Updated: 9 Jun 2015

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