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

Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.
 

Author(s): Hui Li, Zhi Ma, Ying Xie, Feng Tian

Journal: Ann Hepatol. ;16(3):460-464.

 

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, ...

Last Updated: 20 Apr 2017

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A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.
 

Author(s): John Odom, Maria Gieron-Korthals, Dorothy Shulman, Patricia Newkirk, Eloise Prijoles, Amarilis Sanchez-Valle

Journal:

 

Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient's ...

Last Updated: 3 Feb 2016

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Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.
 

Author(s): Adrijan Sarajlija, Tatjana Milenkovic, Maja Djordjevic, Katarina Mitrovic, Sladjana Todorovic, Bozica Kecman, Khalid Hussain

Journal: J Clin Res Pediatr Endocrinol. 2016 Jun;8(2):228-31.

 

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is considered as the second most common type of hereditary HI. Correlation of genotype and phenotype in HI/HA syndrome has been described in several studies. We present three Serbian patients with HI/HA syndrome with emphasis on a possible ...

Last Updated: 9 Jun 2016

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

Sudden valproate-induced hyperammonemia managed with L-carnitine in a medically healthy bipolar patient: Essential review of the literature and case report.
 

Author(s): Carlo Ignazio Cattaneo, Francesca Ressico, Roberta Valsesia, Pierluigi D'Innella, Matteo Ballabio, Michele Fornaro

Journal: Medicine (Baltimore). 2017 Sep;96(39):e8117.

 

Valproic Acid is a commonly used psychiatric drug primarily used as a mood stabilizer. Mild hyperammonemia is a Valproic Acid common adverse effect. This report presents an example of treated hyperammonemia on Valproic acid therapy managed with L-carnitine administration in BD patients ...

Last Updated: 27 Sep 2017

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[A Case of Hyperammonemia Caused by Urinary Tract Infection Due to Urease-Producing Bacteria].
 

Author(s): Masahiro Emura, Kazunari Tsuchihashi, Yosuke Shimizu, Sojun Kanamaru, Shun Matoba, Noriyuki Ito

Journal: Hinyokika Kiyo. 2016 Aug;62(8):421-5.

 

We present here a rare case of hyperammonemia without liver dysfunction or portal-systemic shunting. The patient was an 80-year-old woman with a history of neurogenic bladder. She was admitted to a nearby hospital for vomiting, diarrhea and consciousness disturbance. Two days after ...

Last Updated: 14 Sep 2016

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Hyperammonemia in Distal Renal Tubular Acidosis: A New Case and Review of the Literature.
 

Author(s): Kai-Hsiang Hsu, Chi-Hui Cheng, Min-Hua Tseng, Jen-Fu Hsu, Reyin Lien, Peng-Hong Yang

Journal: Pediatr Neonatol. 2015 Dec;56(6):432-4.

 

Last Updated: 28 Nov 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
 

Status: Recruiting

Condition Summary: Inborn Errors of Metabolism

 

Last Updated: 15 Aug 2016

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

Status: Recruiting

Condition Summary: Propionic Acidemia, Type I and/or Type II; Methylmalonic Acidemia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Ornithine Carbamoyltransferase Deficiency

 

Last Updated: 5 Oct 2017

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Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 31 Aug 2017

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