Citrullinemia Type II

Common Name(s)

Citrullinemia Type II, Adult-onset citrullinemia type II

Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Citrullinemia Type II" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Citrullinemia Type II" 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 Type II" returned 13 free, full-text research articles on human participants. First 3 results:

An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
 

Author(s): Yoshimi Takahashi, Shingo Koyama, Hidetomo Tanaka, Shigeki Arawaka, Manabu Wada, Toru Kawanami, Hiroaki Haga, Hisayoshi Watanabe, Kentaro Toyota, Chikahiko Numakura, Kiyoshi Hayasaka, Takeo Kato

Journal: Intern. Med.. 2012 ;51(16):2131-4.

 

Mutations in the SLC25A13 gene lead to neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia (CTLN2). A 62-year-old man presented with recurrent episodes of neuropsychiatric manifestations. On admission, he had disorientation and flapping ...

Last Updated: 15 Aug 2012

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The characteristics of food intake in patients with type II citrullinemia.
 

Author(s): Mio Nakamura, Masahide Yazaki, Yumiko Kobayashi, Kazuhiro Fukushima, Shu-ichi Ikeda, Keiko Kobayashi, Takeyori Saheki, Yutaka Nakaya

Journal: J. Nutr. Sci. Vitaminol.. 2011 ;57(3):239-45.

 

Some patients with citrin deficiency caused by SLC25A13 gene mutations develop adult-onset type II citrullinemia (CTLN2) with hepatic encephalopathy. A recent nutritional survey of 18 citrin-deficient subjects (age 1-33 y) confirmed a marked decrease in carbohydrate intake compared ...

Last Updated: 12 Sep 2011

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MRI of adult-onset type II citrullinemia.
 

Author(s): Kenji Sakai, Yasuko Matsumoto, Keiko Kobayashi, Masahito Yamada

Journal: Intern. Med.. 2005 May;44(5):524-5.

 

Last Updated: 8 Jun 2005

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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 Type II" 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.