Citrullinemia

Common Name(s)

Citrullinemia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Citrullinemia" 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 "Citrullinemia" 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 "Citrullinemia" returned 42 free, full-text research articles on human participants. First 3 results:

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
 

Author(s): G Karthikeyan, Sujatha Jagadeesh, Suresh Seshadri, J Häberle

Journal: Indian Pediatr. 2013 Oct;50(10):965-6.

 

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase ...

Last Updated: 13 Nov 2013

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Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
 

Author(s): R J Chandler, T N Tarasenko, K Cusmano-Ozog, Q Sun, V R Sutton, C P Venditti, P J McGuire

Journal: Gene Ther.. 2013 Dec;20(12):1188-91.

 

Citrullinemia type 1 (CTLN1) is an autosomal recessive disorder of metabolism caused by a deficiency of argininosuccinate synthetase. Despite optimal management, CTLN1 patients still suffer from lethal metabolic instability and experience life-threatening episodes of acute hyperammonemia. ...

Last Updated: 5 Dec 2013

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Citrullinemia stimulation test in the evaluation of the intestinal function.
 

Author(s): Beatriz Pinto Costa, Marco Serôdio, Marta Simões, Carla Veríssimo, F Castro Sousa, Manuela Grazina

Journal: Nutr Hosp. ;28(1):202-10.

 

Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function.

Last Updated: 1 Jul 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 "Citrullinemia" returned 1 free, full-text review articles on human participants. First 3 results:

Type II citrullinemia in an elderly patient treated with living related partial liver transplantation.
 

Author(s): K Takenaka, I Yasuda, H Araki, T Naito, Y Fukutomi, H Ohnishi, N Yamakita, T Hasegawa, H Sato, Y Shimizu, H Matsunami, H Moriwaki

Journal: Intern. Med.. 2000 Jul;39(7):553-8.

 

A 60-year-old woman was admitted to our hospital for repeated consciousness disturbance. Blood examination showed hyperammonemia, and plasma amino acid analysis revealed a marked increase in the citrulline level. To establish a diagnosis, a percutaneous needle biopsy of the liver ...

Last Updated: 6 Dec 2000

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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

Last Updated: 4 Feb 2013

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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: 16 Jul 2014

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