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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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 18 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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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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Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
 

Author(s): Han-Shi Zeng, Shu-Tao Zhao, Mei Deng, Zhan-Hui Zhang, Xiang-Ran Cai, Feng-Ping Chen, Yuan-Zong Song

Journal: Int. J. Mol. Med.. 2014 Nov;34(5):1241-8.

 

Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD phenotype in pediatrics; however, knowledge on its genotypic and phenotypic characteristics remains limited. The ...

Last Updated: 22 Sep 2014

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Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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