1. First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
- Author
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Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, and Tincheva RS
- Subjects
- Arginine blood, Bulgaria, Citrulline blood, Citrullinemia blood, Citrullinemia diagnosis, Citrullinemia diet therapy, Female, Follow-Up Studies, Galactose administration & dosage, Genetic Carrier Screening, Humans, Infant, Newborn, Male, Methionine blood, Mutation, Missense genetics, Phenotype, Pregnancy, White People genetics, Calcium-Binding Proteins deficiency, Citrullinemia genetics, DNA Mutational Analysis, Mitochondrial Membrane Transport Proteins genetics, Organic Anion Transporters deficiency
- Abstract
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 the first few weeks of life with cholestatic hepatitis syndrome, multiple aminoacidemia and hypergalactosemia. To date almost all reported patients were from East Asia and only few cases from Caucasian origin have been described. We report the first Bulgarian case of NICCD. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
- Published
- 2014