Hyperammonemia

Common Name(s)

Hyperammonemia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperammonemia" 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.

Last Updated: 18 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperammonemia" 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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General Resources

UCD International Patient Registry

Join other UCD families in the only registry in existence designed to accelerate new research specifically for UCDs. Patients & caregivers self-report their own unique experiences with UCD to help improve care and find new treatments.

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 "Hyperammonemia" returned 54 free, full-text research articles on human participants. First 3 results:

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
 

Author(s): Clara D van Karnebeek, William S Sly, Colin J Ross, Ramona Salvarinova, Joy Yaplito-Lee, Saikat Santra, Casper Shyr, Gabriella A Horvath, Patrice Eydoux, Anna M Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary D Vallance, Marion Coulter-Mackie, Hien Nguyen, Lin-Hua Zhang, Amit P Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W Wasserman, Sylvia Stockler-Ipsiroglu

Journal: Am. J. Hum. Genet.. 2014 Mar;94(3):453-61.

 

Four children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and early childhood. We identified and validated three different CA5A alterations, including a homozygous missense ...

Last Updated: 10 Mar 2014

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[Clinical effect of stem cell transplantation via hepatic artery in the treatment of type II hyperammonemia: a report on 6 cases].
 

Author(s): Kan DU, Zuo Luan, Su-Qing Qu, Hui Yang, Yin-Xiang Yang, Zhao-Yan Wang, Hui-Yu Jin, Wei-Peng Liu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):948-53.

 

This study aimed to investigate the clinical effect of transplantation of CD133⁺ peripheral blood stem cells or umbilical cord mesenchymal stem cells via the hepatic artery in children with type II hyperammonemia and its possible action mechanism. Umbilical cord mesenchymal stem ...

Last Updated: 15 Nov 2013

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Hyperammonemia in cirrhosis induces transcriptional regulation of myostatin by an NF-κB-mediated mechanism.
 

Author(s): Jia Qiu, Samjhana Thapaliya, Ashok Runkana, Yu Yang, Cynthia Tsien, Maradumane L Mohan, Arvind Narayanan, Bijan Eghtesad, Paul E Mozdziak, Christine McDonald, George R Stark, Stephen Welle, Sathyamangla V Naga Prasad, Srinivasan Dasarathy

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Nov;110(45):18162-7.

 

Loss of muscle mass, or sarcopenia, is nearly universal in cirrhosis and adversely affects patient outcome. The underlying cross-talk between the liver and skeletal muscle mediating sarcopenia is not well understood. Hyperammonemia is a consistent abnormality in cirrhosis due to impaired ...

Last Updated: 6 Nov 2013

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

Alterations of blood brain barrier function in hyperammonemia: an overview.
 

Author(s): Marta Skowrońska, Jan Albrecht

Journal: Neurotox Res. 2012 Feb;21(2):236-44.

 

Ammonia is a neurotoxin involved in the pathogenesis of neurological conditions associated with hyperammonemia, including hepatic encephalopathy, a condition associated with acute--(ALF) or chronic liver failure. This article reviews evidence that apart from directly affecting the ...

Last Updated: 28 Dec 2011

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Hyperammonemia and neonatal cardiac failure.
 

Author(s): T Adamovic, P Jouvet, S Vobecky, L Garel, A L Rougemont, F Alvarez

Journal: Minerva Anestesiol. 2011 May;77(5):554-7.

 

Severe hyperammonemia (hyperNH3) in neonatal cardiac failure after cardiac surgery is rare. We report a case of a 2470-g female infant born at the week 37 of gestation with complex congenital heart disease (truncus arteriosus type III, interrupted aortic arch and tricuspid valve insufficiency) ...

Last Updated: 4 May 2011

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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

Blood Sugars in Children With Idiopathic Seizures.
 

Status: Recruiting

Condition Summary: Seizures; Hypoglycemia; Hyperammonemia

 

Last Updated: 6 Sep 2006

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N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
 

Status: Recruiting

Condition Summary: Inborn Errors of Metabolism

 

Last Updated: 12 Aug 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: 12 Aug 2014

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