Citrin Deficiency

Common Name(s)

Citrin Deficiency, Neonatal intrahepatic cholestasis caused by citrin deficiency

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Citrin Deficiency" for support, advocacy or research.

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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 "Citrin Deficiency" returned 17 free, full-text research articles on human participants. First 3 results:

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.
 

Author(s): Jun Ye, Wen-Juan Qiu, Lian-Shu Han, Hui-Wen Zhang, Xue-Fan Gu

Journal: Chin. Med. J.. 2015 Nov;128(21):2979-80.

 

Last Updated: 2 Nov 2015

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An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa.
 

Author(s): Satsuki Takeuchi, Masahide Yazaki, Shinji Yamada, Tetsuhiro Fukuyama, Akio Inui, Yasushi Iwasaki, Shu-ichi Ikeda

Journal: Pediatrics. 2015 Aug;136(2):e530-4.

 

We report a 12-year-old female citrin-deficient patient presenting with severe anorexia and body weight loss, mimicking the restricting type of anorexia nervosa (AN). She showed normal development until age 10 years when she started to play volleyball at school. She then became gradually ...

Last Updated: 3 Aug 2015

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Citrin deficiency presenting as acute liver failure in an eight-month-old infant.
 

Author(s): Mei-Hong Zhang, Jing-Yu Gong, Jian-She Wang

Journal: World J. Gastroenterol.. 2015 Jun;21(23):7331-4.

 

Citrin deficiency typically presents as neonatal intrahepatic cholestasis and resolves in late infancy. Here we report a case of citrin deficiency that presented as acute liver failure in late infancy in an apparently healthy child. The full-term male infant weighed 3400 g at birth, ...

Last Updated: 25 Jun 2015

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Reviews from the PubMed Database

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The terms "Citrin Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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