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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General Support Organizations

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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 11 free, full-text research articles on human participants. First 3 results:

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
 

Author(s): Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien

Journal:

 

Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for several inborn errors, including citrin deficiency (screened by citrulline ...

Last Updated: 19 Feb 2013

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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
 

Author(s): Suporn Treepongkaruna, Suttiruk Jitraruch, Porawee Kodcharin, Dussadee Charoenpipop, Pim Suwannarat, Paneeya Pienvichit, Keiko Kobayashi, Duangrurdee Wattanasirichaigoon

Journal:

 

The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) especially, ...

Last Updated: 30 Oct 2012

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Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband.
 

Author(s): Xin-Jing Zhao, Xiao-Mei Tang, Qing-Bing Zha, Shan-Shan Shi, Yuan-Zong Song, Xiao-Min Xiao

Journal: Tohoku J. Exp. Med.. 2011 ;225(4):273-6.

 

Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), the major CD phenotype at pediatric age, ...

Last Updated: 18 Nov 2011

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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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