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 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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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 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 "Citrullinemia" returned 47 free, full-text research articles on human participants. First 3 results:

Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARĪ±.
 

Author(s): Michiharu Komatsu, Takefumi Kimura, Masahide Yazaki, Naoki Tanaka, Yang Yang, Takero Nakajima, Akira Horiuchi, Zhong-Ze Fang, Satoru Joshita, Akihiro Matsumoto, Takeji Umemura, Eiji Tanaka, Frank J Gonzalez, Shu-Ichi Ikeda, Toshifumi Aoyama

Journal: Biochim. Biophys. Acta. 2015 Mar;1852(3):473-81.

 

SLC25A13 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its genetic deficiency causes adult-onset type II citrullinemia (CTLN2). CTLN2 is one of the urea cycle disorders characterized by sudden-onset hyperammonemia due to reduced ...

Last Updated: 31 Jan 2015

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Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
 

Author(s): Pen-Hua Su, Jia-Yuh Chen, Yung-Jung Chen, Dau-Ming Niu, Ju-Hui Hsu, Inn-Chi Lee

Journal: J. Formos. Med. Assoc.. 2014 Nov;113(11):857-61.

 

The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic ...

Last Updated: 2 Dec 2014

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Case of adult-onset type II citrullinemia treated as schizophrenia for a long time.
 

Author(s): Masatoshi Kyo, Hiroshi Mii, Yoshiteru Takekita, Daisuke Tokuhara, Masahide Yazaki, Yasushi Nakamori, Satoshi Kono, Toshihiko Kinoshita

Journal: Psychiatry Clin. Neurosci.. 2015 May;69(5):306-7.

 

Last Updated: 28 Apr 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 "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 Genetics Home Reference.

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

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: 23 Aug 2016

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