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

Genetic counseling (Geneva, Switzerland) - 1 Jan 2014

Avdjieva-Tzavella D M, Ivanova M B, Todorov T P, Todorova A P, Panteleeva E I, Tincheva S S, Lazarova E A, Kathom H M, Yaneva P G, Tincheva R S

Abstract excerpt

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 citrullinemia type II (CTLN2) in adults. NICCD presents in...

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PMID: 25365849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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