First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

@article{AvdjievaTzavella2014FirstBC,
  title={First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.},
  author={Daniela Avdjieva-Tzavella and Mariya B Ivanova and T. P. Todorov and Albena P Todorova and E I Panteleeva and Savina Tincheva and Emiliya Lazarova and H M Kathom and Penka Yaneva and Radka S Tincheva},
  journal={Genetic counseling},
  year={2014},
  volume={25 3},
  pages={271-6}
}
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in… CONTINUE READING